What is sickle cell anemia? Diagnosis and treatment of sickle cell anemia Genotype of patients with subclinical sickle cell anemia

Compared to other blood diseases, sickle cell anemia is rare and is diagnosed in people from the Middle East and Africa.

The indigenous population of these areas are carriers of hemoglobin of an abnormal structure. But it is interesting that this feature allows it to protect itself from the penetration of the malaria pathogen into the body.

Information about the disease

The disease belongs to a variety of pathologies. Its name is due to the fact that the shape of red blood cells is irregular, resembling a sickle. Due to a defect in their structure, the functions of the blood and its composition change.

Red blood cells cannot be fully saturated with oxygen, and their life cycle decreases. They are destroyed not after three or four months (as is normal), but much earlier.

The same thing happens with hemoglobin inside sickle cells. Hence the development of anemia, since the bone marrow does not have time to produce new blood cells.

Causes of blood disease

Sickle cell anemia is considered a hereditary disease. Due to a gene mutation, hemoglobin S is synthesized, the structure of which is changed compared to normal.

Glutamic acid in the peptide chain is replaced by valine, and hemoglobin becomes a poorly soluble, highly polymeric gel. Therefore, red blood cells carrying this form of hemoglobin take on the appearance of a sickle. Their inability to be plastic contributes to the blockage of small vessels by red cells.

The type of inheritance of the disease is recessive. If the gene is passed on to a child from one of the parents who is a carrier of the mutation, then the child will have normal cells along with the changed cells in the blood. In carriers of the gene with heterozygous anemia, the symptoms of the pathology often manifest themselves in a mild form.

When the defect is inherited from both mother and father, the disease takes on severe forms and is diagnosed in young children. She is called homozygous.

The provocateur of a gene mutation in a person is determined by:

• malaria pathogen;
• viruses that reproduce inside cells;
• ionizing radiation that affects the human body for a long time;
• heavy metal compounds related to aggressive mutagens;
• drug components containing mercury.

As a result of the action of these factors, sickle-shaped red blood cells are produced.

The difference between a dominant type of inheritance and a recessive one

Any genetic disease is inherited in two types. Dominant is characterized by the fact that the disease will be transmitted to a representative of each generation, regardless of gender.

Even if one of the parents is the carrier of the gene, 25 percent of the offspring will suffer from the pathology.

The recessive type of inheritance is characterized by the fact that the gene mutation is found in only half of the descendants of one carrier. If one of the parents carries the gene for the disease, symptoms may appear within a generation.

Genetics says that recessive inheritance occurs more often in men. Girls can inherit it from their father. Healthy parents may produce a son with a recessive gene.

What triggers the development of anemia

Blood pathology can also occur for other reasons. This includes the presence in adults of:

• lupus erythematosus;
• blood diseases;
• diseases of the immune system - amyloidosis;
• sepsis;
• chronic glomerulonephritis;
• bacterial endocarditis.

Symptoms of sickle anemia may appear as a result of a blood transfusion, after an organ transplant or prosthetics.

These causes are less common than the hereditary factor of the disease.

Clinical picture and stages of the disease

Depending on the number of defective red blood cells in a person’s blood, the following symptoms of the disease occur:

1. Thrombosis of blood vessels leads to swelling and pain in joints and bone tissue.
2. In the absence of nutrition and lack of oxygen, osteomyelitis develops. As the disease progresses, the limbs become thinner and the spine becomes bent.
3. At the second stage of the disease, anemia develops with the gradual destruction of red blood cells - hemolysis. In this case, the patient experiences an enlargement of the liver or spleen. Biochemistry reflects what is happening. With the maximum development of destruction of red blood cells, body temperature rises.
4. Change in urine color to red-brown or black. Yellowness of the skin and mucous membranes is detected.

These signs appear in heterozygous heirs who are carriers of the gene, but only during periods of intense physical activity, airline flights, and climbing high in the mountains. Brain hypoxia at this moment provokes the onset of a hemolytic crisis.

How does the disease progress in children?

Both parents, as carriers of the gene, transmit the disease of the homozygous type to their child. In the blood of a newborn by four to five months of life, the sickle-shaped red blood cells predominate by 90 percent. Anemia develops against the background of hemolysis, the rapid breakdown of red cells. In children:

• growth retardation develops, mental abilities are reduced;
• signs of spinal curvature appear;
• the frontal sutures of the skull thicken;
• the skull is deformed, taking on the appearance of a tower;
• joints swell;
• pain occurs in the bones, muscles of the chest, abdomen;
• The skin and sclera turn yellow.

Symptoms become more pronounced if the concentration of defective hemoglobin increases.

The addition of infection, hypoxia, stress, and dehydration in a hereditary form of anemia leads to the development of crises, and the rapid breakdown of red blood cells leads to increased formation of bilirubin and coma.

Diagnostic methods

It is not always possible to make the correct diagnosis based on external manifestations. Therefore they carry out:

1. General blood test. It will show an accurate picture of the peripheral blood and inform you about the condition of the internal organs.
2. Blood biochemistry to assess the qualitative composition of this biological fluid. With anemia, the level of bilirubin will be higher than normal, and the content of free hemoglobin and iron will be increased.
3. Electrophoresis. The procedure will show what type of hemoglobin the patient has.
4. Ultrasound examination. It will help identify enlargement of the liver, spleen, and the presence of heart attacks in them. Diagnostics will also show impaired blood flow in the extremities.
5. A puncture taken from the bone marrow will reveal the expansion of the erythroblastic lineage that produces blood cells.
6. X-ray of the spine, the entire human skeleton. The image will show deformations of bones, vertebrae, and purulent processes in them.

In heterozygotes, only tests can confirm the presence of the disease gene. This will warn carriers of the mutation against rash actions in terms of health and will help them plan the birth of children correctly.

Blood picture

In patients with sickle cell anemia, the presence of:

• reducing hemoglobin levels to 50-80 grams per liter;
• cells with Jolly bodies, Cabo rings;
• increased number of immature red blood cells - reticulocytes;
• normochromia;
• high level of leukocytes.

And with this type of anemia, the bone marrow produces immature red blood cells, releasing them into the peripheral blood.

Conservative treatment of the disease

The causes and clinical picture of sickle cell anemia are such that it cannot be completely eliminated, but the risk of undesirable consequences can be reduced. The complex of treatment measures includes donor blood transfusion.

Thanks to this procedure, oxygen will be transported throughout the patient's body for some time. Indications for transfusion are life-threatening conditions when the hemoglobin level is sharply reduced. But the disadvantage of the procedure is many adverse reactions of the body..

Medications used:

• to eliminate pain syndrome - the synthetic drug Tramadol;
• a drug with an analgesic and anti-shock effect - Promedol;
• excess iron in the blood is eliminated with Desferal or Exjade;
• glucocorticosteroids to normalize the size of the liver and spleen;
• to prevent the addition of a bacterial infection - Amoxicillin, to eliminate it - Cefuroxime, Erythromycin.

Treatment must include medications containing folic acid.

One of the effective methods for relieving acute anemia is oxygen therapy, or hyperbaric oxygenation. Under the influence of gas entering the human body under pressure, oxidative processes return to normal and the level of intoxication decreases.

Splenectomy, an operation to remove the spleen, helps improve the patient's condition temporarily.

Considering the pathogenesis of anemia, hematologists can only carry out measures to prevent crises, relieve the patient of pain and other symptoms of the disease. It is not possible to completely get rid of the disease.

Possible complications

A long course of sickle anemia is fraught with frequently recurring crises, which complicates the serious condition in patients:

1. Changes in the spleen occur due to the processes of replacement of organ tissue with connective tissue. In this case, the spleen decreases in size and shrinks.
2. Disturbances occur in the form of renal failure, inflammation of the lungs and meninges, and sepsis.
3. The consequence of the disease in women is a tendency to miscarriage.
4. Lack of nutrition of the heart muscle leads to myocardial ischemia.
5. This cannot be done without the development of cholecystitis and the formation of gallstones, which is a consequence of the toxic effect of bilirubin in the blood.

Complications with homozygous anemia cannot be avoided. Only constant monitoring of the blood condition and bringing it back to normal will alleviate the patient’s suffering.

Prevention measures

The prognosis for patients with sickle disease is not always positive. If children receive the homozygous form of the disease, they die from infections or from blockage of blood vessels.

For carriers of the defective gene, the prognosis is more comforting, but they must follow a number of rules, which include:

• choosing a place to live where the climate is moderate and the altitude above sea level is within 1.5 thousand meters;
• avoidance of alcohol and drugs;
• quitting smoking;
• choosing a profession that is not associated with heavy loads, contact with toxic substances and work in rooms with high air temperatures;
• drinking plenty of fluid daily, at least one and a half liters.

Before the birth of the child, both parents are examined. A hereditary disease can be detected if, after studying the gene material, a mutant of sickle cell anemia is identified.

Determination of mutagen in the early stages of embryo development is carried out using modern methods.

The positive result of the study poses a problem for future parents. After all, only they can appreciate the importance of the decision to terminate a pregnancy in a timely manner or hope for the birth of a healthy child, a carrier of the gene without symptoms of anemia.

One of the most common tests, which is prescribed by different doctors and for different diseases, is a general blood test. Every person takes it dozens of times in his life. A blood test is very informative: blood circulates throughout the body and contains information about all the processes that occur in it.

The blood conveys this information using various indicators, for each of which medicine has long established its own normal limits. But blood is not only an informant: it is a kind of liquid organ, which means, like all organs, it is susceptible to diseases.

A group of such diseases in humans consists of anemia of various origins, and almost all of them respond quite well to treatment. However, there are anemias that a person cannot prevent or cure. One such serious disease is sickle cell anemia.

Sickle anemia and red blood cells

Red blood cells, as many people know, are red blood cells filled with hemoglobin. There are many red blood cells, they make up about a quarter of all cells in the body, and they are all delivery workers.

The transport task of red blood cells consists of two components: the transport of oxygen from the lungs throughout the body and the transport of carbon dioxide from the organs to the lungs. Thus, the body's breathing is ensured.

Red blood cells are round in shape and have high plasticity, and therefore can pass through capillaries of much smaller diameter without any difficulty. However, with sickle cell anemia, nature designed the round shape of red blood cells to change to a narrow sickle shape, which gave the name to the disease.

Changed red blood cells are unable to efficiently cope with their work. The oxygen they deliver is not enough to provide the required level of oxygen in the body's cells. In addition, there are catastrophically few red blood cells in anemia, since their life expectancy is an order of magnitude shorter than that of normal ones. They also get stuck in the capillaries, disrupting the blood supply to tissues and organs.

Types and causes of the disease

Sickle cell anemia is a disease that is inherited, and nothing else. If a man and a woman planning a child are the owners of this disease, then the child can take a defective gene from each of them.

Two defective genes are a clear form of the disease, often with serious symptoms and sometimes leading to disability and even death.

But another option is also possible: if the child takes the mutated gene from only one of the parents, and the normal one from the other. In this case, the disease will be asymptomatic. This is the so-called carrier state, which may not affect the child’s quality of life in any way.

Just keep in mind that the absence of symptoms will not make the defective gene any more normal. And if two carriers of such a gene decide to have a child, they may well get the first option, with a bright clinical picture.

The probability of having a healthy child is, in general, zero if at least one of the parents suffers from an open form of the disease. In this case, the most favorable outcome that can be hoped for is the birth of a child with a carrier state. However, even this option is excluded if both parents have an open form of the disease - the child will share their fate.

If both parents are carriers of an asymptomatic form of the disease, then they have a chance to give birth to a healthy child who will not be affected by their disease at all: the probability of this is 25%.

However, it so happened that the red blood cells, which during the illness acquired a sickle shape, are not to the liking of the malarial plasmodium. This can hardly be called a coincidence. There is even a version that the gene mutation that causes sickle cell anemia is protection against malaria.

Of course, in the modern free world, where a person is no longer tied to the place of his birth, this disease can be found in almost any corner of the Earth.

Symptoms of anemia

The development of sickle cell anemia can be divided into three periods:

• infancy and early childhood;
• childhood;
• adolescence and older.

The first stage of anemia appears from 3–4 months, until this time the child is no different from other babies. Symptoms of the first period of anemia are swelling and soreness of the limbs as a result of poor circulation. This can ultimately lead to the child not wanting to learn to walk: pain and inconvenience from walking will be strong repulsive factors.

Another symptom of anemia is the condition of the skin: its dullness and pallor, as well as the presence of a yellowish tint. This also applies to the mucous membranes: they do not have a characteristic pink color, but may have a yellow tint.

The second stage - childhood - reveals an even greater number of symptoms (in addition to the existing ones):

• lack of activity characteristic of childhood. Due to a lack of oxygen, the body becomes incapable of active actions, they cause rapid fatigue and begin to be perceived as unwanted;
• dizziness - caused by the same lack of oxygen;
• enlarged spleen, which makes the body weak against infections;
• retardation in physical and mental development: all skills (speech, motor and cognitive) develop more slowly than those of peers.

The last stage of anemia smoothly follows from the second: developmental delay now also affects the sexual sphere. Nevertheless, puberty occurs in a child, albeit delayed.

Other symptoms seen in adults with sickle cell disease may include:

• atrophy and death of tissues or organs;
• skin diseases;
• vision problems of varying severity (from decreased visual acuity to complete blindness);
• heart problems of varying severity;
• blood in urine;
• involuntary erection, which may be accompanied by painful sensations;
• fragility and deformation of bones;
• joint damage;
• impairment of sensitivity and motor functions of the limbs, up to their loss.

It is worth mentioning that each child may exhibit different symptoms, but the entire list in one person at once is rather an exception, and a rare one at that.

In addition to all of the above, at any stage of anemia, hemolytic crises are possible, which are provoked by factors such as previous infection, severe physical exertion, hypothermia, overheating or rising to a high altitude (more than 2 km above sea level). Hemolytic crisis is expressed:

• decreased blood pressure;
• vomiting;
• weakness;
• increased body temperature;
• loss of consciousness.

Complications of sickle cell anemia

The disease has many complications, and all of them pose a threat to life.

In infants and toddlers, a serious complication of sickle cell disease is infection. Serious because it can result in blood poisoning.

It is necessary to exercise extreme vigilance, and if a child has the slightest suspicion of an infection (loss of appetite, fever and moodiness), immediately seek medical help.

If you sound the alarm in time and start treatment of anemia with antibiotics in a timely manner, the threat to the child’s life can be averted. After approximately 5 years of age, the risk of death decreases significantly (but, alas, does not disappear).

In adults, pulmonary or kidney failure may develop as a result of long-term blockage of the capillaries of the lungs or kidneys. This can cause early death.

Blocked capillaries can also occur in the lungs, which can lead to distress syndrome, which also often ends in death.

Another complication of sickle cell anemia is stroke. Also deadly. It is not a very common symptom of the disease, but it affects adults and children.

As for the ability to carry and give birth to a child, women with sickle cell anemia can do this. But they need constant monitoring by an experienced gynecologist, since the disease significantly increases the likelihood of miscarriage or premature birth.

In addition, an additional burden is placed on a woman’s body, which can become a critical point after which serious health problems begin.

Diagnosis of the disease

Any blood disease is the domain of a hematologist. Based on the examination and clinical picture, the doctor can only assume sickle cell anemia, but not accurately diagnose it.

In order to obtain confirmation or refutation of the disease, tests are necessary. Of course, first of all, these are blood tests: general and biochemical. By reading and comparing the results, the doctor will receive a more accurate picture of what is happening.

Another important test for diagnosing anemia is hemoglobin electrophoresis. It is a laboratory method for the quantitative determination of normal and abnormal hemoglobins. Of course, with sickle cell anemia, the number of normal hemoglobins will be greatly reduced, and abnormal hemoglobins, on the contrary, will be too high.

To confirm the diagnosis or clarify the damage caused by the disease to the body, an ultrasound may be prescribed. It will show an enlargement of the spleen (if any) and impaired circulation in the organs and limbs (again, if any).

Bones can also be affected by sickle cell disease, becoming brittle, thinning, or misshapen. An x-ray will help identify these changes, so x-rays are also an important part of diagnosing anemia.

Treatment of sickle cell anemia

A way to get rid of this disease has not yet been invented, so treatment in general comes down to ensuring that as few symptoms appear as possible and that they are as mild as possible. Here are several areas in which work can be done to treat anemia:

• exclusion of provoking factors (intense physical activity, hypothermia, overheating, elevation);
• maintaining a healthy lifestyle (quitting smoking and alcohol, drinking plenty of fluids);
• increasing the number of red blood cells through blood transfusions;
• increasing hemoglobin levels with medications;
• use of oxygen therapy;
• taking painkillers;
• taking medications that reduce iron levels in the blood;
• prevention and treatment of infections.

How to prevent the disease?

Here the question can be posed differently: how to prevent the birth of a child with sickle cell anemia. Not all parents at risk ask themselves this question: some would prefer to give birth to a child who will struggle with the disease all his life than to terminate the pregnancy.

However, there will also be parents who choose the second option. Research that allows them to determine at an early stage of fetal development whether it has defective genes can help them decide what to do next.

Around the eleventh week, amniotic fluid can be examined, the accuracy of which is 99%. Another high-precision study is chorionic villus biopsy (future placenta).

With this research, sickle cell anemia will not come as a tragic surprise, allowing you to make timely decisions or prepare mentally for what's to come. And also calm down and enjoy life if it turns out that everything is in order with the child’s genes.

Sickle cell anemia is a disease that cannot be forgotten. If you let it go by itself, it will begin to destroy the body until it achieves its death. Being attentive to your body is the main rule of people suffering from this disease. A rule that ideally should be followed by every person.

Despite the reduced life expectancy (on average, no more than 60 years), a person with sickle cell anemia can easily live a happy life with loved ones, successfully repelling the attacks of the disease.

Etiology and incidence of sickle cell anemia. (MIM No. 603903) is an autosomal recessive hemoglobin disorder caused by a missense mutation in the beta subunit gene that replaces valine with glutamic acid at position 6. The disease is most often caused by homozygosity for the sickle cell mutation, although sickle cell anemia can also be caused by compound heterozygosity for the sickle cell allele and the HbC or beta thalassemia alleles.

Spread of sickle cell anemia varies widely among populations according to past and present distribution of malaria. The sickle cell mutation appears to slightly increase resistance to malaria, thereby conferring a survival advantage on heterozygous mutation carriers.

Pathogenesis of sickle cell anemia

Hemoglobin is formed from four subunits: two a-subunits encoded by the JBA gene on chromosome 16, and two beta subunits encoded by the JBA gene on chromosome 11. The Glu6Val mutation in the beta subunit reduces the solubility of unsaturated hemoglobin and causes the formation of a network of rigid fibrous polymers that distort structure of the red blood cell, giving it the shape of a sickle. Sickle-shaped red blood cells clog capillaries and cause heart attacks.

Initial enrichment oxygen causes the hemoglobin polymer to dissolve and red blood cells restore their normal shape; however, regular disruption of the shape leads to an irreversible transition of cells into a sickle shape, subsequently such red blood cells are removed from the bloodstream in the spleen. The rate of removal of red blood cells from the bloodstream exceeds the ability of their synthesis in the bone marrow, which leads to hemolytic anemia.

Allelic heterogeneity common in most Mendelian diseases, especially when mutant alleles cause loss of function. Sickle cell disease is an important exception to this rule because in this case a single specific mutation is responsible for the unique novel properties of HbS. HbC is also less soluble than HbA and also tends to crystallize in red blood cells, reducing their capillary deformability and causing mild hemolysis, but HbC does not form polymer fibers like HbS. Not surprisingly, other mutations with novel functions, such as mutations in the FGFR3 gene that cause achondroplasia, often have a similar reduction in allelic heterogeneity, where the phenotype depends on a specific, unique change in protein function.

Phenotype and development of sickle cell anemia

Clinical painting Patients with sickle cell disease typically present during the first two years of life with anemia, developmental delay, splenomegaly, regular infections, and dactylitis (painful swelling of the hands or feet caused by blocked capillaries in the small bones found in the example patient).

Heart attacks Due to vascular occlusions, they occur in many tissues, causing cerebral strokes, acute cardiac syndrome, renal papillary necrosis, splenic infarctions, leg ulcers, priapism, avascular necrosis of bones and decreased vision. Bone vascular occlusion causes episodes of pain, and if left untreated, these painful episodes can last for days or even weeks. Functional asplenia due to heart attacks and other poorly understood factors predisposes to bacterial infections, such as pneumococcal or salmonella sepsis and osteomyelitis.

Infection is the leading cause of death in all age groups, although progressive renal and respiratory failure are also common causes of death in the fourth and fifth decades of life. Patients are also at high risk of developing life-threatening aplastic anemia after parvovirus infection because parvoviruses cause a temporary cessation of red blood cell production.

Heterozygous mutation carriers("sign" of sickle cell) do not have anemia and are usually clinically healthy. However, under conditions of severe hypoxia, such as mountain climbing, the red blood cells of patients with sickle cell “trait” can take on a sickle shape, causing symptoms similar to those seen in sickle cell disease.

Peculiarities phenotypic manifestations of sickle cell anemia:
Age of onset: childhood
Anemia
Heart attacks
Asplenia

Treatment of sickle cell anemia

Specific sick With sickle cell anemia, it is impossible to give an accurate prognosis of the severity of the disease. Although the molecular basis of the disease became known earlier than other monogenic diseases, treatment remains only symptomatic. No specific therapy has been found to protect against the formation of sickle red blood cells.

Significantly reduces severity illnesses persistence of HbE Several pharmacological agents are being investigated to increase HbF concentrations, and the use of hydroxyurea has been approved for this purpose. Although gene therapy has the chance to improve or cure this disease, effective b-globin gene transplantation has not been achieved. Bone marrow transplant remains the only treatment currently available that can help sickle cell disease.

Because of 11% mortality caused by sepsis in the first 6 months of life, most states in the United States provide neonatal screening for sickle cell disease with antibiotic prophylaxis continuing until age 5 years.

Risks of inheriting sickle cell anemia

Because sickle cell anemia- an autosomal recessive disease, future siblings of an affected child have a 25% risk of sickle cell anemia and a 50% risk of being sickle cell carriers. Using fetal DNA obtained through IVS or amniocentesis, prenatal diagnosis can be made by detecting the mutation.

Example of sickle cell anemia. For the second time in six months, a Caribbean couple took their 24-month-old daughter to the emergency department because the girl was unable to stand. There is no history of fever, infection, or trauma, and the medical history is otherwise unremarkable; previous examinations were normal except for a low hemoglobin level and a slightly enlarged spleen. During the current examination, no pathology was found, with the exception of the palpable edge of the spleen and swelling of the feet.

Feet are painful when palpation, and the girl did not want to get to her feet. Both parents had siblings who died of infections in childhood and other siblings who probably had sickle cell disease. Taking into account the history and repeated painful enlargement of the feet, the doctor tested the child for the presence of sickle cell anemia using hemoglobin electrophoresis. The result of this test confirmed the presence of HbS.

Symptoms of sickle cell anemia

Homozygous sickle cell anemia usually appears in children by 4-5 months of life, when the amount of HbS increases and the percentage of sickle red blood cells reaches 90%. In such cases, the early onset of hemolytic anemia in a child causes a delay in physical and mental development. Disorders of skeletal development are characteristic: tower skull, thickening of the frontal sutures of the skull in the form of a ridge, kyphosis of the thoracic or lordosis of the lumbar spine.

There are three periods in the development of sickle cell anemia: I - from 6 months to 2-3 years, II - from 3 to 10 years, III - over 10 years. Early signals of sickle cell anemia are arthralgia, symmetrical swelling of the joints of the extremities, pain in the chest, abdomen and back, jaundice of the skin, and splenomegaly. Children with sickle cell anemia are classified as frequently ill. The severity of sickle cell anemia closely correlates with the concentration of HbS in red blood cells: the higher it is, the more severe the symptoms.

Under conditions of intercurrent infection, stress factors, dehydration, hypoxia, pregnancy, etc., patients with this type of hereditary anemia may develop sickle cell crises: hemolytic, aplastic, vascular-occlusive, sequestration, etc.

With the development of a hemolytic crisis, the patient's condition sharply worsens: febrile fever occurs, indirect bilirubin in the blood increases, jaundice and pallor of the skin intensifies, and hematuria appears. Rapid breakdown of red blood cells can lead to anemic coma. Aplastic crises in sickle cell anemia are characterized by suppression of the erythroid sprout of the bone marrow, reticulocytopenia, and a decrease in hemoglobin.

Sequestration crises result from the deposition of blood in the spleen and liver. They are accompanied by hepato- and splenomegaly, severe abdominal pain, and severe arterial hypotension. Vascular-occlusive crises occur with the development of renal vascular thrombosis, myocardial ischemia, infarction of the spleen and lungs, ischemic priapism, retinal vein occlusion, thrombosis of mesenteric vessels, etc.

Heterozygous carriers of the sickle cell anemia gene under normal conditions feel practically healthy. Morphologically altered red blood cells and anemia occur in them only in situations associated with hypoxia (during heavy physical activity, air travel, mountain climbing, etc.). At the same time, an acutely developed hemolytic crisis in the heterozygous form of sickle cell anemia can be fatal.

Complications of sickle cell anemia

The chronic course of sickle cell anemia with repeated crises leads to the development of a number of irreversible changes, often causing the death of patients. In about a third of patients, autosplenectomy is observed - wrinkling and reduction in the size of the spleen caused by the replacement of functional tissue with scar tissue. This is accompanied by a change in the immune status of patients with sickle cell anemia and a more frequent occurrence of infections (pneumonia, meningitis, sepsis, etc.).

The outcome of vascular-occlusive crises can be ischemic strokes in children, subarachnoid hemorrhages in adults, pulmonary hypertension, retinopathy, impotence, and renal failure. Women with sickle cell anemia have a late development of the menstrual cycle, a tendency to spontaneous abortion and premature birth. The consequence of myocardial ischemia and hemosiderosis of the heart is the occurrence of chronic heart failure; kidney damage - chronic renal failure.

Prolonged hemolysis, accompanied by excessive formation of bilirubin, leads to the development of cholecystitis and cholelithiasis. Patients with sickle cell anemia often experience aseptic bone necrosis, osteomyelitis, and leg ulcers.

Diagnosis and treatment of sickle cell anemia

The diagnosis of sickle cell anemia is made by a hematologist based on characteristic clinical symptoms, hematological changes, and family genetic research. The fact that a child has inherited sickle cell anemia can be confirmed during pregnancy using chorionic villus sampling or amniocentesis.

In the peripheral blood, normochromic anemia (1-2x1012/l), decreased hemoglobin (50-80 g/l), and reticulocytosis (up to 30%) are noted. A blood smear reveals sickled red blood cells, cells with Jolly bodies and Cabot rings. Hemoglobin electrophoresis allows you to determine the form of sickle cell anemia - homo- or heterozygous. Changes in biochemical blood samples include hyperbilirubinemia, increased serum iron levels. When examining bone marrow puncture, expansion of the erythroblastic lineage of hematopoiesis is revealed.

Differential diagnosis is aimed at excluding other hemolytic anemias, viral hepatitis A, rickets, rheumatoid arthritis, tuberculosis of bones and joints, osteomyelitis, etc.

Sickle cell anemia is classified as an incurable blood disease. Such patients require lifelong observation by a hematologist, measures aimed at preventing crises, and, if they develop, symptomatic therapy.

During the development of a sickle cell crisis, hospitalization is required. In order to quickly relieve an acute condition, oxygen therapy, infusion dehydration, administration of antibiotics, painkillers, anticoagulants and antiplatelet agents, and folic acid are prescribed. In severe exacerbations, red blood cell transfusion is indicated. Splenectomy cannot affect the course of sickle cell anemia, but it can temporarily reduce the manifestations of the disease.

Prognosis and prevention of sickle cell anemia

The prognosis for homozygous sickle cell disease is poor; Most patients die in the first decade of life from infectious or thrombo-occlusive complications. The course of heterozygous forms of pathology is much more encouraging.

To prevent the rapidly progressing course of sickle cell anemia, provoking conditions (dehydration, infections, overexertion and stress, extreme temperatures, hypoxia, etc.) should be avoided. Children suffering from this form of hemolytic anemia are required to be vaccinated against pneumococcal and meningococcal infections. If there is a family with sickle cell anemia, medical genetic consultation is necessary to assess the risk of developing the disease in the offspring.

One of the diseases of the circulatory system of the hereditary type, which is characterized by a defect of the genetic type, with a subsequent failure of the normal formation of red blood cells and hemoglobin, is sickle cell anemia (drepanocytic anemia), or simply SCA.

Which in turn is a subtype of hemolytic anemia, which is inherited.

Sickle cell anemia is one of the most aggravating forms of hemoglobinopathies (failure of hemoglobin formation caused by genetics).

In the case of this pathology of hemoglobin cells, healthy hemoglobin A cells are partially replaced by hemoglobin S.

The formed type of hemoglobin differs in its electrophysical properties, as a result of which the structure of the red blood cells themselves changes.

Being oval and round in shape, they elongate with a bend in the middle, the red blood cell inherits a sickle shape, which is where the name of the disease comes from.

One of the most aggravating forms of hemoglobinopathies (failure of hemoglobin formation caused by genetics) type of inheritance is sickle cell anemia, or simply SCA.

The danger of sickle-shaped red blood cells lies in the blocking of many small vessels, which can lead to serious complications and illnesses, sometimes even death.

FACT! Unsuspecting carriers of SKA are 0.5% of the total population of the Earth.

What are red blood cells and hemoglobin?

Globin chains are formed at the genetic level, and under the control of genes of different chromosomes.

Red blood cells called erythrocytes are responsible for moving oxygen cells around the body and delivering them to organs.

They are disc-shaped and small in size (7.5-8.3 microns), the red blood cell has increased thickness at the edges and a hollow in the center.

Due to this shape, it can pass through even the thinnest capillaries, the size of which is two to three times smaller than the diameter of the red cell.

Changing its shape to pass through the capillary, the erythrocyte restores it upon exiting it, due to spectrin.

The space inside the red blood cell is almost completely filled with hemoglobin. Which in turn consists of globin (a protein) and heme (an element containing iron).

Each individual red blood cell contains about 30 pg of hemoglobin. .

As a result of the combination of amino acids (protein components), the alpha and beta chains of the globin protein are formed, two of each (a1 and a2 + b1 and b2).

In addition to the formation of alpha and beta protein chains, other globin chains (sigma, gamma and delta types) can also form in red cells.

The combination of these types in chains leads to the formation of different types of hemoglobin, characteristic of certain stages of human development.

Other types of protein chains may be:

• HbA. The form of normal hemoglobin, more than 90% in adults, consists of two alpha and two beta protein chains;
• HbA A minority of hemoglobins, accounting for up to 2% of the total amount of human hemoglobin. Contains two alpha and two sigma protein chains;
• HbF. Also called fetal hemoglobin, it contains two alpha and two gamma chains and is primarily found during fetal development inside the womb. The levels of this protein in the blood of an adult do not rise above 1.5%;
• HbU. Called fetal hemoglobin, it is formed inside red cells after 2 weeks from the moment of conception and is completely replaced by HbF after the start of blood formation in the liver.

What is sickle cell anemia?

There are different types of anemia known to medicine. A subtype of hemolytic anemia is sickle cell anemia.

Its peculiarity is the deformation of the structural component of hemoglobin, which changes the red cells from round to elongated and thin, resembling sickle-shaped ones.

At the initial stages of pathology, the process can be normalized by re-moving them through the capillaries of the lungs, consuming oxygen, and returning to their standard form.

Red cells give oxygen to various tissues thousands of times a day.

Therefore, there is an option, disruption of the integral structure of the red cell, which will lead to their deformation into a sickle shape.

Clogging of capillaries occurs when their passage is blocked by sickle-shaped red blood cells, since they do not have a plastic shape and simply block the blood flow.

Clogged capillaries lead to a disruption in blood circulation, which leads to a lack of oxygen in organs whose channels are blocked, which leads to greater formation of sickle-shaped red blood cells.

The lifespan of red sickle cells is several times lower due to the fragile membrane.

A drop in the quantitative indicator of red blood cells in the blood, accompanied by blockage of channels and possible oxygen starvation of organs, leads to serious complications, including even death.

Residents of Africa, the Middle and Near East, and India are susceptible to sickle anemia, and hemoglobin S is found in 40% of the original indigenous population.

Protein mutation processes are recorded in one dark-skinned baby for every five hundred newborns. One third of the indigenous people of southern Africa have deformed genes.

Also, with the concentration of S-hemoglobin in the body, the body does not succumb to malaria and malarial plasmodium.

How does hemoglobin S affect blood formation?

The change in the shape of an erythrocyte to a sickle shape occurs under the influence of hemoglobin S, which forms crystalline chains.

When deformed to a sickle shape, the red blood cell loses its ability to:

• Transporting oxygen through the blood;
• Due to a decrease in the lifespan of cells, it contributes to increased breakdown in the tissues of the spleen;
• Able to dissolve with the assistance of enzymes.

Failure to move oxygen throughout the human body leads to a lack of oxygen cells in the organs. The bone marrow is constantly required to produce normal globin, as a result of which the stem cells responsible for the production of white blood cells and platelets are damaged.

Reasons sickle cell anemia

The gene mutation is inherited by children from their parents, and does not appear in the child’s body on its own.

A mutation in one gene (possibly two genes) causes sickle cell disease.

Containing twenty-three chromosomes, the sex cells of both sexes fuse during fertilization, resulting in the formation of a new cell, directly from which the fetus grows.

The child will take genetic cells from both the father and mother. This anemia is inherited in an autosomal recessive manner.

Having a dependence on genes received from both parents, one can be born:

• Carrier without symptoms. With this option, one gene with a defect and one healthy gene are inherited. In turn, a healthy gene encodes the formation of healthy hemoglobin chains. As a result, the red blood cell will contain an equal amount of hemoglobins S and A, and form normal red blood cells and normal forms of protein chains;
• A child affected by SCA. Such a scenario is possible if two parents are affected by sickle cell anemia, or are carriers of it without symptoms.

Medicine does not yet know why SCA appears. Recent advances by scientists on this issue have identified the factors influencing genetic mutations.

The reason for the influence on the mutation may be:

• Ion irradiation. They are a stream of particles invisible to the eye that can act on the genetics of living cells, causing mutations. Quantitative indicators and obvious expression of mutations directly depend on the dose and duration of radiation. Radiation occurs as a result of accidents at nuclear power plants, explosions of atomic bombs, and constant X-ray examinations.
• Malaria infection. The development of sickle cell anemia is provoked by malarial plasmodia. In turn, plasmodia, entering the body, strike red blood cells, resulting in their large quantitative destruction. This entails genetic mutations, and thus the possibility of SCD appears. Some scientists believe that this is just the body's reaction against the effects of malaria, because red sickle cells are not affected by malaria;
• Viruses. Such organisms are able to progress exclusively within a living cell. The virus changes the genetic structure of the cell by taking root in it. It follows that the cells begin to produce viral fragments.
• Medicines. Certain medications affect the genetic system and cause the risk of mutation. The greatest danger is posed by drugs against tumors and drugs that suppress the immune system.
• Environment. These include various chemicals that a person encounters during his life. Epichlorohydrin, which is used in the manufacturing process of most drugs, has enormous power. Also styrene, used in plastic production. Cigarette smoke also has negative properties.

How to identify the symptoms of SCAD?

If a person is an asymptomatic carrier, then the manifestation of obvious symptoms is possible only when progressing to a severe stage of hypoxia.

The asymptomatic course of the disease can progress from minimal symptoms to disability and possible death.

The presence of certain factors can directly or indirectly affect the severity of sickle cell anemia:

• Presence of hemoglobin in the bloodF. Its greater concentration in the blood reflects less expression of symptoms. This is why, well, newborns have no symptoms of sickle cell anemia;
• Social factors. The complications of the disease can be prevented by applying effective treatment. So its availability plays an important role;
• Location of the person. The higher a person is above sea level, the greater the oxygen pressure created. That is, the higher a person is above sea level, the lower the concentration of oxygen in the air. Those suffering from such anemia are prohibited from living in areas located high above sea level.

Obvious signs of sickle cell anemia are a decrease in the life of red blood cells, since sickle cells live less, as well as possible complications caused by the sickle cells blocking the channels.

Direct indicators of SKA are:

• Increase in the size of the spleen;
• Clear signs of capillary blockage;
• Signs of rapid death of red blood cells;
• Rapid infection with severe infections;
• Hemolytic crises;

Hemolytic crises are stages of sickle cell anemia that progress from any acute infection.

If red blood cells are not restored immediately, death is possible.

At the initial stages of the disease, the hematopoietic system of the bone marrow and arteries that feed the bones are under attack.

Because of this, symptoms of the initial stage arise:

• Yellow skin. The release of bilirubin into the blood, which appears when red blood cells are deformed, contributes to the yellow tint of the skin and mucous membranes. Under normal conditions, bilirubin is processed by the liver and excreted from the body. Jaundice occurs due to a large number of dying red blood cells; the liver is simply not able to process all the bilirubin;
• Brain fog, dizziness. When the capillaries leading to the brain are blocked, there is a lack of oxygen in it, which requires immediate intervention;
• Pale skin. Due to the fact that the quantitative indicator of red blood cells falls, the skin takes on a pale tint and becomes drier;
• Darkening of urine. With an increased amount of bilirubin in the blood, the color of urine changes;
• Difficulty breathing. With sickle cell anemia, patients feel a lack of air. Usually occurs during physical exertion, or severe forms of illness, as well as staying in places high above sea level;
• Oversaturation of the body with iron. With the constant repetition of severe hemolytic crises, the body is excessively saturated with iron. This will lead to complications in the functioning of the affected organs.
• Bones become thin;
• The spine is curved;
• Bulges appear on the forehead, and the skull may become elongated.

Fact! Medicine cannot yet fight sickle cell anemia, eradicating it completely, but by maintaining treatment, affected people can live peacefully into old age, and even have children.

Since passage through small vessels is impossible for sickle-shaped red blood cells, the following symptoms may appear as a result of blocking of the vessel:

• Vascular damage. Swelling and pain are recorded in the area of ​​the joints of the lower legs, fingers, and hands;
• Priapism. Under this name lies the concept of erection of the genital organ in men, accompanied by severe pain of a prolonged nature. This happens when small channels supplying blood to the penis are blocked, which may lead to impotence;
• Painful attacks. When any small vessels that supply blood to organs are blocked, there is a lack of oxygen in certain organs, which leads to severe pain, lasting from a couple of hours to 1-2 days;
• Deformation of the bone structure. Frequent bone deformities and increased fragility clearly indicate sickle cell anemia. Also, in the process of bone marrow damage, changes in the structure of the spine and ribs may occur;
• Heart failure. When the coronary arteries are blocked, due to a lack of oxygen to the heart, a heart attack can occur. The heart can also increase in size due to the fact that anemia and lack of oxygen lead to an increase in the frequency of its beating, which will lead to the development of heart failure.
• Urine with blood. If sickle-shaped red blood cells block the veins that supply the kidneys, the tissues that form urine are depleted, and red blood cells penetrate into them. With prolonged overlap, kidney failure will occur;
• Decreased vision. When the capillaries responsible for supplying blood to the retina are blocked. Different vessels are responsible for different functions, so a sharp decline in vision may develop, and may even result in blindness.

What are hemolytic crises?

Acute attacks that appear as a result of pronounced destruction of red blood cells are called hemolytic crises.

As the crisis progresses, chills, vomiting, general fatigue, as well as pain attacks in the rib area, increased body temperature, and shortness of breath are common.

Crises are recorded with pathologies of the circulatory system, with transfusion of incompatible blood, congenital and acquired hemolytic anemia, and the use of certain medications.

Types of hemolytic crises

The appearance of hemolytic crises at any stage of life is normal. Remission can last for months or even years, after which the attacks will resume.

The occurrence of a crisis may be affected by:

• Great physical activity;
• Loss of fluid from the body;
• The influence of too low and high temperatures;
• Aggravated generalized infection;
• Staying at an altitude of more than two thousand meters above sea level.

Forming a large number of red sickle-shaped bodies that cover small capillaries and are destroyed in the liver, spleen and bone marrow, the number of red blood cells in the blood decreases.

The division into types of hemolytic crises occurs according to the main symptom:

There is also a very rare type of hemolytic crisis called acute chest syndrome. Its peculiarity is a sharp increase in temperature, pain in the chest, and heavy breathing. The duration of such a crisis can last up to 1 month.

Features of symptoms by age category

Cases of this type of anemia are recorded in both children and adults.

For newborns up to 3 months, weight gain occurs as in healthy children. Signs of sickle cell anemia may include swelling of the extremities of individual toes and hands, but this is in children from six months of age.

At one year of age, pain in the legs may appear, as well as their weakness, and yellow skin may appear.

Therapy in this case is aimed at resolving the blood clot in small vessels. Severe complications arise from infectious diseases, which can lead to sepsis and death.

Children after the age of five are less likely to develop a general infection in the body.

Because your own immunity begins to function. In adolescence, they may manifest themselves in short stature.

Women affected by this type of anemia can give birth, but the pregnancy process must be carried out under the supervision of a hematologist in order to avoid complications.

The presence of multiple symptoms is quite rare; in most cases, there is one variant of the pathology.

What complications can occur with SCD?

Constant repetition of hemolytic crises, with a chronic form of sickle cell anemia, can lead to pathologies that lead to complications or death.

In one third of those affected, a decrease in the size of the spleen, as well as its shrinkage, is recorded. This occurs as a result of a change from normal tissue to scar tissue.

This leads to deformation of the immune state of patients, and increased incidence of sepsis (general infection of the body), pneumonia and other diseases.

The result of hemolytic crises can be:

• Self-termination of pregnancy, premature birth;
• Impotence;
• Kidney pathologies, renal failure;
• Heart failure;
• Retinopathy;
• Ischemic strokes in children;
• Pulmonary hypertension;
• Cholecystitis;
• and others.

How and who diagnoses SCA?

Even on the basis of clearly expressed symptoms, diagnosis is quite difficult, since the symptoms of sickle cell anemia are similar to the symptoms of many blood diseases.

A detailed analysis of the medical history may lead the hematologist to suspect sickle cell anemia, which will be the impetus to refer the patient for research.

For this type of anemia, a number of specific studies are used:

• Clinical blood test;
• Blood biochemistry;
• X-ray examination;
• Study of hemoglobin by electrophoresis.

Clinical blood test

Suspecting absolutely any blood disease, doctors refer patients for a clinical (general) blood test.

It helps determine whether organs are in normal condition, and also provides information about proper hematopoiesis and the presence of infectious infection. For this type of analysis, both blood from a finger and from a vein are suitable.

The collection must take place in the morning and on an empty stomach. The day before the test, it is advised not to drink alcohol, smoke, or take drugs or pills. All this is needed for a more accurate analysis indicator.

When drawing blood from a finger with suspected sickle cell anemia, it is wound with a tourniquet, creating conditions of oxygen deficiency. This provokes a large influx of red sickle-shaped cells to the finger, which helps make the diagnosis easier.

Abnormalities that occur in the blood during SCD are shown in the table below (Table 1):

Table 1

Component name	What does this mean?	Generally accepted standards	Deviations with SCA (HK – hemolytic crises)
(RBC) Red blood cells	A reduced level of red blood cells in the body is associated with sickle cell anemia and increased death of red blood cells. During periods of GC, the condition is especially characteristic, since more than 50% of red cells can be neutralized.	Men (M): 4.0 – 5.0 x 10 12 /l.	Less than 4.0 x 10 12/l.
		Women (W): 3.5 – 4.7 x 10 12 /l.	Less than 3.5 x 10 12 /l
(HGB) Hemoglobin	The total hemoglobin level drops due to the destruction of red blood cells.	M: 130 – 170 g/l.	Less than 130 g/l.
		F: 120 – 150 g/l.	Less than 120 g/l.
(WBC) White blood cells	This indicator increases when the body is affected by infectious diseases, which is especially typical in sickle-shaped anemia.	4.0 – 9.0 x 10 9 /l.	A white blood cell count above 9.0 indicates the presence of infection.
(PLT) Platelets	With a large size of the spleen, not only sickle-shaped, but also normal red blood cells are destroyed, this happens in the case of the development of hypersplenism in the blood.	180 – 320 x 10 9 /l.	Within normal limits, or reduced.
(RET) Reticulocytes	A decrease in the quantitative indicator of red blood cells contributes to the production of erythropoietin by the kidneys, as a result of which the processes of blood formation in the bone marrow are enhanced. As a result, a larger number of reticulocytes are released into the peripheral bloodstream.	M: 0.24 – 1.7%. F: 0.12 – 2.05%.	Increased, especially BG.
(Hct) Hematocrit	The ratio of plasma elements and formed elements of blood shows hematocrit. Hemolysis entails a decrease in the total number of red blood cells, as a result of which the hematocrit index also drops.	M: 42 – 50%. F: 38 – 47%.	The deviation is below the norm by up to 20%, at the moments of the GK.
(ESR) Erythrocyte sedimentation rate	Red cells settle to the bottom of the tube at a certain rate. The low content of red blood cells in the body causes them to settle to the bottom of the test tube faster.	M: 3 – 10 mm/hour. F: 5 – 15 mm/hour.	More than 10 mm/hour. More than 15 mm/hour.

Blood biochemistry

This type of blood test helps to more broadly determine the state of the body, gives indicators for almost all organs of the body, and for the quantitative and qualitative state of the blood.

In biochemistry, there are also normal indicators, deviation from which indicates a particular pathology.

The biochemistry study for SCD is given below (Table 2):

Table 2

Name	What does this mean?	Normal indicator	Abnormalities in sickle cell anemia (HK – hemolytic crisis)
Bilirubin indicator	It shows how quickly the red ones in the spleen are destroyed.	4.5 – 17.1 µmol/l.	Many times higher than normal.
Free plasma hemoglobin	SGP shows the rate of destruction of red blood cells in the vessels; during this process, multiple amounts of hemoglobin are released into the blood.	Less than 220 mg/l.
Plasma haptoglobin concentration	The protein formed in the liver is called haptoglobin. It is responsible for moving hemoglobin to the spleen for further destruction. When red blood cells die in the vessels, its hemoglobin levels increase, so haptoglobin falls.	0.8 – 2.7 g/l.	Many times higher than the norm, especially during the period of hysteria.
Free iron level in blood	In the case of GC plaza, the quantitative indicator of free iron increases. The protein does not have time to remove all the iron that appears during the breakdown of multiple red blood cells, which increases the concentration of iron in the blood.	M: 17.9 – 22.5 µmol/l. F: 14.3 – 17.9 µmol/l.	At times of high blood pressure, this indicator can be several times higher than normal.
Alanine aminotransferase (ALAT) and aspartate aminotransferase (AST) levels	ALT and AST are enzymes stored in the liver in predominant quantities. The higher their indicator, the more liver tissue is destroyed.	M: up to 41 U/l. F: up to 31 U/l	In case of extensive liver damage, it is much higher than normal.

Normal hemoglobin electrophoresis values

There are types of pathological hemoglobins, which include HbS (sickle cell hemoglobin), MetHb (a form of hemoglobin with a ferric ion), and Hb-CO (carboxyhemoglobin formed in the presence of carbon monoxide CO in the air), as well as Hb-CO (glycated hemoglobin , formed by inhaling CO in the air).

Hemoglobin electrophoresis is responsible for indicators of the qualitative composition of hemoglobin in the blood. Its normal indicators are shown in the table below (Table 3):

Table 3

How to eliminate pain?

The blocking of small capillaries by sickle-shaped red blood cells leads to a lack of oxygen in the organs to which these vessels supply blood. This causes severe pain in these organs.

To quickly relieve pain, painkillers (narcotic analgesics) are used because the use of other types of medications is not appropriate. After pain is eliminated, therapy is supported with tablets. Medicines for pain relief are given in the table below (Table 4):

Name	Description of action	Dosage	Efficiency
Tramadol	Reduces the strength of pain effects, including opioid receptors in the body. Works with the brain as well as the spinal cord.	It is used intravenously or orally at a dose of 50–100 mg. Dosage: maximum daily dose – 400 mg. It is not recommended for children under one year of age to use.	The effect is felt after 15 minutes when taken orally, but if the drug is injected into a vein, then after 5-10 minutes. Effect lasts up to 5-6 hours
Promedol	Anesthetizes, relieves shock and has a mild hypnotic effect. By stimulating opioid receptors, it blocks pain signals to the nervous system.	Taken orally, up to 3-4 times a day. Dosage: children over 2 years old – 0.1 – 0.5 mg/kg; adults – 25 – 50 mg.	The effect of the drug occurs after 20 - 30 minutes, with a duration of 2 - 4 hours.
Morphine	Provides analgesic properties by suppressing pain signals to the brain. There is a feeling of happiness and comfort. Drug of narcotic nature.	It is taken orally up to 4-5 times a day, depending on how severe the pain is. Dosage: children – 0.2 – 0.8 mg/kg; adults – 10 – 20 mg. Pain is expressed.	The effect of the drug occurs within 25-30 minutes and lasts 4-6 hours.

The main focus of therapy is the elimination of pain, early prevention of the formation of blood clots by sickle-shaped red blood cells, as well as increasing the quantitative indicator of red blood cells.

Fact! The average life expectancy for those affected by SCD is 42 years for males and 48 years for females.

How to prevent complications of SCD?

Medicine has not yet developed a medicine that will eradicate sickle cell anemia once and for all. Therapy is aimed at reducing the amount of sickled red blood cells that form and also preventing complications.

Following some principles when suffering from SCA will help maintain a normal state:

• Lead a healthy lifestyle;
• Eliminate excessive amounts of iron in the body;
• Remove pain syndrome;
• Oxygen therapy for greater blood saturation;
• Maintain normal red cell counts;
• Prevention and therapy of infectious diseases.

There are also recommendations for maintaining a healthy lifestyle, including:

• No excessive physical activity;
• Quit smoking;
• Remove alcoholic beverages from the foods you consume;
• Drink enough water;
• The geographic altitude of more than one and a half thousand above sea level is not acceptable for housing for people suffering from SCD;
• Avoid exposure to extremely low or high temperatures.

By adhering to the list of these simple truths, those suffering from SCA can live normally, without relapses or complications.

What are doctors' prognoses for patients with SCD?

The prognosis for the homozygous form of the disease is unfavorable; many patients die in the first ten years of life from complications. With the heterozygous form, the prognosis is more favorable.

The course of this disease requires close monitoring by doctors.

If there is one patient in the family, everyone should consult a doctor to avoid the development of sickle cell anemia in other relatives.

With proper therapy, life expectancy increases significantly, and you can easily live to old age.

Symptoms most often appear singly, so if you notice one of them, contact a qualified doctor immediately, do not hesitate. Postponing treatment “for later” can cost your life. Don't self-medicate and stay healthy.