Sickle cell anemia. Sickle cell anemia: causes, symptoms, diagnosis, treatment

Crescent cellular anemia– a severe hereditary disease, which, in the absence of supportive therapy, threatens the emergence of deadly complications. Most high level The prevalence of the pathology is noted on the African continent. It has been established that people suffering from this disease practically do not suffer from malaria.

Features of the disease, its characteristics

Sickle cell anemia is a genetically determined hemoglobinopathy - an altered structure of hemoglobin. This protein is part of red blood cells - blood cells, ensuring the delivery of oxygen from the lungs to all tissues of the body and the removal of carbon dioxide from them.

In the blood of a healthy person, approximately 90% of hemoglobin of the Hb A type and up to 10% of Hb F are found. With sickle cell anemia, the first type of protein is replaced by a pathological variety of Hb S.


The transformation of hemoglobin occurs when the oxygen content decreases when red blood cells reach tissues distant from the lungs. By polymerizing and acquiring a crystalline structure, hemoglobin chains give blood cells rigidity and an elongated crescent shape. In the first stages of the disease, this process is reversible - upon reaching the lungs, red blood cells take on oxygen and their normal shape is restored.

But gradually, with each subsequent circle of blood circulation, the permeability of the cell membrane increases, and the loss of water and potassium ions increases. In this regard, the plasticity of red blood cells decreases, and the ability to restore its normal shape is lost. They can no longer easily pass through the narrow lumen of the capillaries, because of this there is a danger of blockage of blood vessels. Hemoglobin, which is part of sickle-shaped erythrocytes, is able to bind a smaller amount of oxygen, so oxygen starvation of tissues increases.

Due to the fragility of the membrane, pathologically altered red blood cells are quickly destroyed. In the absence of timely assistance, all these phenomena can lead to serious complications and death.

The peculiarity of the disease is that it is inherited according to the principle of incomplete gene dominance. With an insignificant concentration of a pathological type of hemoglobin in the blood, patients may feel less pronounced hypoxia, in some cases it manifests itself only with increased physical exertion. If the majority of red blood cells are type A, the symptoms of the disease will be most pronounced and the course will be severe.

You can learn more about the disease and clearly see its essence by watching this video:

Causes of the disease

Sickle cell anemia occurs when the gene responsible for the formation of the b-globin chain is damaged by mutation. The disease has an autosomal recessive type of inheritance, so for its development it is necessary that the altered genetic material be passed on to the child from both parents. At the same time, they can be healthy and be carriers of a mutant gene (the risk of developing the disease in their children is 25%). This form of the disease is called homozygous.

When a child inherits a damaged gene from only one of the parents, a heterozygous form of sickle cell anemia develops. In this case, the number of red blood cells with a pathological type of hemoglobin is balanced by normally functioning blood cells and the person is an asymptomatic carrier without clinical manifestations of pathology. The risk of receiving a predisposition gene for this type of anemia for children, one of whose parents is a carrier, reaches 50%.

Medicine does not yet have information about the exact causes of the mutations that cause sickle cell anemia. As shown Scientific research, the following factors can contribute to damage to various sections of DNA and the development of hereditary diseases:

  • Malaria disease. It is assumed that when its pathogens, Plasmodium, enter the body, a mutation may occur as a protective reaction that prevents the infection from penetrating into red blood cells.
  • The influence of viruses - viral nucleoproteins include RNA or DNA. Getting into the genetic apparatus of human cells, they force it to produce new viral units. This process can also be accompanied by chromosome mutations.
  • Ionizing radiation received with increased background radiation in the environment and frequent X-ray examinations.
  • Contact with harmful chemicals, in particular with epichlorohydrin used in pharmacological production, styrene used for the manufacture of synthetic polymers, inhalation tobacco smoke, ingestion of salts into the body heavy metals. These substances can cause mutations, including those that contribute to the malignant degeneration of tissues.
  • Medications that affect chromosomes. The highest mutagenic activity is possessed by cytostatics used to suppress the growth of tumors, immunosuppressants and drugs containing mercury used to inhibit pathologically functioning immune cells.

Symptoms of sickle cell anemia, course of the disease

In the heterozygous form of the disease, clinical signs may be absent for a long period of time, appearing with the development of conditions leading to oxygen starvation of the body. This can be intense physical activity, loss of a large volume of blood, or being at a significant altitude above sea level. The homozygous form of the disease manifests itself more severely and can lead to disability or death. During the course of the disease, three stages are distinguished: first (initial), second and third.

Signs of the initial stage of the disease

The first stage manifests itself at the age of 5 months with swelling and tenderness of the tissues in the joints, hands, legs and feet due to blockage of the capillaries.

The formation of many sickle-shaped red blood cells followed by massive destruction in small vessels, liver, bone marrow, and spleen causes the development of hemolytic crises. These states may be interspersed with episodes of remission or occur in a continuous sequence.


Hemolytic crises are characterized by an increase in temperature, a feeling of chills, shortness of breath, dizziness, and the skin becoming jaundiced. Jaundice explained high concentration bilirubin in the blood - the liver does not have time to neutralize this substance, which is released in huge quantities during the numerous deaths of red blood cells. Children have pale and dry skin, the color of their urine darkens, and they are delayed in development (physical, including delayed puberty, and mental). Capillary thrombosis can subsequently lead to the development of aseptic necrosis of the femoral head.

Clinical manifestations of the second stage of sickle cell anemia

Active death of sickle red blood cells causes rapid progression of hemolytic anemia. In the bone marrow, trying to compensate for the deficiency of red blood cells, intensive formation of these cells occurs. This leads to its hyperplasia. Visually, an increase in bone marrow volume is manifested in changes in the structure of the bones of the skeleton - lengthening of the arms, legs, skull, curvature of the spine, and the appearance of bulges in the forehead and crown of the head. The child is physically less developed compared to his peers, his weight is reduced, puberty comes late.

The patient has an enlarged spleen and liver; due to vascular thrombosis, there is a risk of developing a cerebral stroke and the formation of trophic ulcers on the skin of the extremities, head, and torso. Hemosiderosis is noted - high density iron in blood cells and tissues internal organs, which threatens the development of liver cirrhosis, heart failure and other dangerous pathologies.

Features of the third stage of the disease

The transition of the disease to the third stage occurs on average 5 years from the moment the first symptoms of sickle cell anemia appear. There is a danger of joining infectious complications, including sepsis. The patient may experience severe pain in body tissues that do not receive the required amount of oxygen due to blockage of blood vessels. Increased pain may cause action low temperatures, overwork, stress, infection.

Diagnosis of the disease, examinations, tests

To make a final diagnosis, hematologists, in addition to the data obtained during examination and interviewing patients and their relatives, study the results of blood tests (general and biochemical), hemoglobin electrophoresis, ultrasound, x-ray examination. Blood taken from patients is placed in a hematology analyzer to determine the quantitative composition of erythrocytes, leukocytes, platelets, reticulocytes, total hemoglobin level, ESR, hematocrit value ( percentage number of cell elements to plasma).


A biochemical analysis shows the level of bilirubin, free iron, liver enzymes ALT and AST, the content of haptoglobin and free hemoglobin in the plasma. Hemoglobin electrophoresis allows you to determine the presence of different types of hemoglobin in the blood (A, A2, F, S). Ultrasonography helps identify enlarged spleen and liver, deterioration of blood flow to organs and limbs, hemorrhages caused by vascular thrombosis. The X-ray method determines the distortion of the shape of the vertebrae, deformation bone tissue(bones are narrow and long), it is affected by osteomyelitis ( purulent inflammation infectious nature).

Treatment options for sickle cell anemia

Currently, no drugs or treatment methods have been developed that would completely cure the disease. Health care turns out to be sick during periods of exacerbation, curative measures are aimed at eliminating the symptoms of hemolytic crises, alleviating the patient’s condition, prolonging his life and improving its quality. Relief from attacks of illness includes strict adherence to bed rest.

To eliminate hemolytic crises, they are used following methods treatment:

  • Blood and red blood cell transfusions can increase hemoglobin levels and red blood cell counts.
  • Oxygen therapy helps prevent the formation of sickled red blood cells and the negative consequences caused by their rapid destruction. When using an oxygen mask, about 5 liters of oxygen per minute are supplied to the patient's lungs.
  • To eliminate pain, potent painkillers are used, in particular narcotic drugs: Promedol, Tramadol, Morphine.
  • To increase the concentration of hemoglobin Hb F in red blood cells, which does not undergo transformation into the Hb S variety, the drug Hydrea is prescribed. It is used after patients reach adulthood if at least 3 exacerbations of the disease occur during the year.
  • The use of the drugs Desferal and Exjade can help reduce excess iron in the body.
  • Intravenous infusion of rehydration solutions helps prevent the development of a crisis.
  • To prevent infection and the development of complications caused by it, newborns suffering from sickle cell anemia are given antibiotic therapy starting from 2 months of age. Its duration can be 5 or more years. To increase the body's resistance to pneumococci, the child is given a specific vaccination.
  • If indicated, removal of the spleen is performed. The operation improves the patient's condition for a long period of time.
  • Enough high efficiency has a bone marrow transplant. The disadvantages of this method are significant cost, the need to select a compatible donor and subsequently take drugs that suppress the immune system to prevent rejection of donor tissue.

Prognosis, possible complications

To prevent the development of severe complications, it is necessary to identify the presence of sickle cell anemia as early as possible in the development of the disease. In the first years of a child’s life, a sharp deterioration can occur as a result of infection of the body. In these cases it is necessary urgent hospitalization sick. The average life expectancy of patients is 50 years.

Regular therapeutic measures, allow you to reduce the frequency of exacerbations of the disease, improve the well-being of patients and reach old age.


Complications of the disease are caused by thrombosis of small vessels and the resulting disruption of blood supply to internal organs and parts of the body. They manifest themselves in the form of ulcerations on the skin and the development of infectious diseases when pathogenic microorganisms enter the body through affected areas. When the arteries supplying blood to the retina are blocked, retinal detachment and partial or complete loss of vision can occur.


Overlapping of the sinusoids of the spleen leads to its enlargement and the occurrence of hypersplenism, in which, due to stagnation of blood, accelerated destruction of not only pathological but also normal blood elements occurs. Thrombosis coronary vessels threatens the development of myocardial infarction. Damage to the kidney veins causes kidney failure.

The blocking of the blood vessels of the male genital organ by sickle-shaped red blood cells leads to priapism (prolonged erection accompanied by pain), and in some cases to impotence. When arteries are blocked in various parts of the spinal cord and brain, impairment or loss of motor functions is observed, and in severe cases, ischemic stroke. These conditions can cause serious harm to the patient's health, especially in early childhood, and some of them even lead to death.

Disease prevention

Due to genetic predisposition Since sickle cell anemia is transmitted from parents to children, it is appropriate to warn couples about this risk before marriage. Appropriate blood tests will help identify the pathological gene.

A number of things can help reduce the likelihood of hemolytic crises and complications in patients: preventive measures:

  • The patient’s place of residence should be located no higher than sea level at an altitude of 1500 m.
  • Flying on airliners should be avoided to avoid exposure to areas of rarefied atmospheric air and pressure changes, which lead to a decrease in the supply of oxygen to the body’s tissues.
  • It is desirable that mild climatic conditions prevail in the patient’s area of ​​residence without excessively high or low temperature values.
  • It is necessary to exclude smoking and drinking alcoholic beverages.
  • Regular intake of folic acid can increase the formation of red blood cells.
  • To prevent dehydration, you should drink at least 1.5 liters of water or other types of liquid throughout the day.
  • You should avoid stress and physical activity, choose light work that does not involve being in rooms with high or low air temperatures.
Sickle cell anemia is a disease that has no cure, but can be successfully treated with timely diagnosis. Patients need to visit regularly medical institution to pass medical examination and identifying changes in health status. Compliance with preventive measures will significantly reduce the risk of crises.

Sickle cell anemia is a hereditary hemoglobinopathy, which is accompanied by changes in the structure of hemoglobin and red blood cells. With this genetically determined anemia, the red blood cells contain hemoglobin S, which has a crystalline structure, instead of hemoglobin A (normal protein). Because of this, red blood cells acquire a sickle shape, are quickly destroyed and can clog blood vessels. That is why this genetic hemoglobinopathy is called “sickle cell anemia”.

Why does sickle cell anemia develop? What are the symptoms of this type of hemoglobinopathy? What complications can it lead to? How is this hereditary blood disorder diagnosed and treated? In this article you can find answers to these questions.

This disease is most common in tropical countries where malaria is endemic and is almost always found in people with dark skin. Men and women get sick with the same frequency. Patients with this disease and carriers of the gene that causes sickle cell anemia are practically immune to infection with Plasmodium. It is also noteworthy that sickled red blood cells are not affected by different strains of the malaria pathogen, even in vitro.

Causes

With this disease, red blood cells are not biconcave, but crescent-shaped, lose flexibility and form conglomerates in the vessels, impeding blood flow

Sickle cell anemia is caused by a gene mutation in the HBB gene, which controls hemoglobin synthesis. If there are defects in it, instead of the usual protein, hemoglobin HbS is formed, consisting of two normal alpha chains and two modified beta chains. A similar disorder is caused by replacing the amino acid valine with glutamic acid.

Modified hemoglobin that appears in erythrocytes under hypoxic conditions crystallizes and forms strands that deform the erythrocytes. The red blood cells become thinner, longer, and take on a sickle-like appearance. These red blood cells become non-plastic, have a reduced ability to transport oxygen and are easily destroyed. Normal red blood cells circulate in the blood for approximately 120 days, but with this form of anemia, their life is reduced to 20 days. Because of this, the patient develops. In addition, the rigidity of sickled red blood cells leads to poor vascular permeability, and the patient’s organs suffer from ischemia.

A child develops sickle cell anemia only when he inherits mutated genes from both his father and mother. Subsequently, only red blood cells with hemoglobin S will circulate in his blood - this condition is called homozygous.

If a child inherits a mutated gene from only one of the parents, then he develops an asymptomatic carrier of the gene - a heterozygous state. In his blood, both hemoglobin A and hemoglobin S will be present in equal volumes. In such people, under normal circumstances, there are no manifestations of the disease, since protein A is able to maintain normal functioning red blood cells. However, if dehydrated or oxygen starvation symptoms of the disease may appear. Subsequently, an asymptomatic carrier of the gene passes it on to their children.

Symptoms

The severity of the symptoms of sickle cell anemia depends on the concentration of hemoglobin S in red blood cells - the higher it is, the more severe the disease. In addition, the severity of manifestations of this form of anemia depends on age, concomitant diseases, lifestyle and social conditions.

Conventionally, the symptoms of sickle cell anemia can be divided into manifestations caused by hemolytic anemia and manifestations of thrombosis different organs, provoked by sickled red blood cells. When exposed to certain factors, the patient may develop hemolytic crises.

Until 3-6 months of a child’s life, sickle cell anemia does not manifest itself in any way. Later, the following manifestations of the disease may occur:

  • muscle weakness;
  • pallor, dryness and decreased elasticity of the skin and mucous membranes;
  • jaundice, caused by the breakdown of red blood cells and the intense release of bilirubin;
  • swelling and soreness of the hands and feet;
  • deformities of the arms and legs;
  • slow development of motor skills.

By the age of 5-6 years, patients with sickle cell anemia increase the risk of contracting severe infections, since sickle-shaped red blood cells that are destroyed in the spleen impede the work of this organ, which is responsible for the formation of lymphocytes and filtering the blood from infectious agents. A decrease in the barrier abilities of the mucous membranes and skin, which is caused by a deterioration in blood microcirculation, can also contribute to the penetration of infection into the body. That is why parents of children with sickle cell anemia are advised to promptly consult a doctor if any signs of infectious diseases occur.

Against the background of anemia, accompanied by constant hypoxia, the patient experiences frequent dizziness, fatigue, etc. Due to insufficient oxygen supply to tissues, children lag behind in physical and mental development. As a rule, adolescents with sickle cell anemia begin puberty later (usually delayed by 2-3 years), but the disease does not prevent further childbearing. Women with sickle cell disease should remember that pregnancy will always be accompanied by increased risk development of complications (miscarriages, premature births, worsening anemia in mother and child).

IN adolescence and in adults, sickle cell anemia begins to make itself felt by manifestations of blockage of small vessels and organ ischemia:

  • pain in different organs;
  • changes in bone structure (especially severely damaged femur, the patient may subsequently require hip replacement);
  • skeletal changes: tower skull with convexities in the crown and forehead, thin limbs, curvature of the spinal column;
  • swelling and pain in the joints of the arms and legs;
  • periodic febrile conditions;
  • ulcerative skin lesions of the lower extremities;
  • visual impairment due to blockage of retinal vessels;
  • decreased sensitivity, paresis;
  • (painful erections in men);

Due to excessive deposition of hemosiderin (hemosiderosis) in the cardiovascular system, the patient develops, and renal vascular thrombosis leads to the development. Lung damage can lead to respiratory failure and pulmonary infarction. Hemosiderosis of the pancreas and liver causes the development of and. Damage to the nervous system can lead to cranial nerve palsies.

The course of sickle cell anemia is aggravated by the occurrence of hemolytic crises. Their development can be caused by various factors accompanied by a sharp decrease in the level of oxygen in the blood: intense exercise, infections, overheating or hypothermia, dehydration, air travel, mountaineering, etc.

During a hemolytic crisis, the following symptoms occur:

  • strong, chest or back;
  • pain in large bones;
  • a sharp decrease in hemoglobin levels;
  • fainting;
  • darkening of urine.

Hemolytic crises can occur in both patients and carriers of sickle cell anemia. Moreover, in the latter, this exacerbation of the disease can cause death.

In children, the manifestations of hemolytic crisis are complemented by chest syndrome– severe chest pain and shortness of breath. These manifestations are caused by blockage of the capillaries of the lungs and can lead to the death of the child.

Complications

Sickle cell anemia can lead to various consequences:

  • and other heavy ones bacterial lesions(up to );
  • stroke;
  • blindness;
  • pulmonary infarction;
  • renal failure;
  • cardiovascular failure;
  • respiratory failure;
  • cirrhosis of the liver;
  • diabetes;

Diagnostics


In order to diagnose sickle cell anemia, a specific study is carried out to evaluate how the blood interacts with the buffer solution. Cloudiness of the solution confirms the diagnosis

A doctor can assume the development of sickle cell anemia (especially in dark-skinned young patients or children) based on pain in the bones and abdomen, jaundice, features in the structure of the skeleton, periodic hemolytic crises and other clinical symptoms of the disease. To confirm the diagnosis, the following specific studies are performed:

  • “wet smear” - the sickle-shaped form of red blood cells is revealed after the interaction of blood with sodium metabisulfite;
  • interaction of blood with a buffer solution - hemoglobin S is poorly soluble in such solutions, and after a few minutes the solution becomes cloudy.

To determine the heterozygous or homozygous form of the disease, hemoglobin electrophoresis is performed. This study involves studying the mobility of hemoglobin in an electric field.

To assess the general condition of the patient, the following is carried out:

  • – a decrease in hemoglobin level to 50-80 g/l and a decrease in the number of red blood cells is detected;
  • – an increase in the level of serum iron and bilirubin is detected.

The condition of organs in sickle cell anemia is assessed using:

  • radiography;

Treatment

Sickle cell anemia is caused by a gene defect and cannot be completely cured. Therapy for this disease is aimed at eliminating symptoms and preventing consequences.

The goals of treatment for sickle cell disease are:

  • to eliminate hemoglobin and iron deficiency - achieved through transfusion of blood products based on red blood cells or the introduction of hydroxyurea (a cytostatic that increases hemoglobin levels);
  • pain relief - pain syndrome is eliminated by prescribing narcotic analgesics (morphine hydrochloride, promedol, tramadol), first they are administered intravenously, and then the patient is prescribed tablet forms;
  • removal of excess iron from the body - drugs are prescribed (for example, deforaxamine (Desferal)) that can bind serum iron;
  • treatment of hemolytic crises.

When infectious diseases develop, the patient is prescribed antibiotic therapy.

All patients with sickle cell anemia are given recommendations to minimize the progression and exacerbation of the disease:

  • limiting heavy physical activity;
  • quitting smoking, drinking alcohol and drugs;
  • exclusion of exposure to low and high temperatures;
  • adequate fluid intake;
  • introduction of vitamin-rich foods to the menu;
  • refusal to climb to an altitude of more than 1500 m above sea level.

When a hemolytic crisis develops, the following measures are taken:

  • oxygen inhalation;
  • intravenous infusion of solutions for rehydration and detoxification: Reopoliglyukin, Trisol, Disol, Acesol, 4% sodium bicarbonate solution, 5% glucose solution, physiological solution;
  • administration of painkillers and anticonvulsants;
  • administration of antihypoxants (sodium hydroxybutyrate) to eliminate ischemia and prevent its consequences;
  • administration of anticoagulants (heparin) to prevent thrombosis;
  • prevention of hemosiderosis (Desferal);
  • stabilization of diuresis (administration of fluids and diuretics);
  • the use of membrane stabilizers (vitamin E and A, Riboxin, Essentiale);
  • blood transfusion

Symptoms of sickle cell anemia

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

In conditions of intercurrent infection, stress factors, dehydration, hypoxia, pregnancy, etc. in patients with this type hereditary anemia Sickle cell crises may develop: 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 inhibition 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 in 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.). However, 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 immune status patients with sickle cell anemia, more frequent occurrence 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 experience late onset menstrual cycle, 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 necrosis bones, osteomyelitis, 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, 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. For the purpose of quick relief 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.

Blood is a type of liquid connective tissue, which performs many functions in the human body. It ensures the transport of oxygen and nutrients, and also participates in the removal of metabolic products. Red blood cell pathologies are accompanied by severe disorders and often require intensive care. Sickle cell anemia is a hereditary disease that leads to changes in the normal structure of hemoglobin. This connection enables respiratory function blood, because it easily interacts with oxygen. When pathology occurs, the shape of red blood cells changes, which normally represent a biconcave lens. The cells take on a flattened appearance, becoming sickle-like, hence the name of the disease.

This form anemia is common in countries where malaria is endemic. Doctors associate this pattern with the historical formation of resistance to the infectious agent. Sickle red blood cells are not susceptible to infection by Plasmodium, which healthy people leads to the onset of disease. Since the pathology is caused by a genetic mutation, it is characterized by inheritance. This disorder of red blood cell function is currently incurable. Therapy is only symptomatic and helps to temporarily maintain the human body. With adequate correction of the course of the disease, patients live to an old age.

The pathology is genetic, that is, it is associated with a mutation of a certain part of the chromosome. This is accompanied by a change in the normal structure of the hemoglobin protein, which forms the basis of red blood cells. There are several reasons for this defect:

Main features

Symptoms of sickle cell anemia are usually divided into several groups. This is due to various parts of the pathogenesis of the disease:

  1. Hemolysis is the process of destruction of red blood cells in the bloodstream. It is accompanied by the development of symptoms such as pallor of the mucous membranes and skin, dizziness and fast fatiguability. At later stages, the skin becomes jaundiced, and patients complain of shortness of breath. Respiratory symptoms of sickle cell anemia are associated with impaired respiratory function of red blood cells, that is, their inability to transport oxygen. IN severe cases the development of hemolytic crises is noted, which are accompanied by massive blockage of blood vessels.
  2. Enlargement of the spleen. This organ is the largest blood depot. Its parenchyma is the site of red blood cell recycling. With the massive destruction of red blood cells, splenomegaly develops. It manifests itself pain syndrome, diagnosed using ultrasound.
  3. Blockage of blood vessels by elements of red blood cell breakdown. This process leads to a change in the normal trophism of tissues. There is an occurrence ulcerative lesions skin disorder visual functions, as well as joint deformities. Depending on the location of the formed clots, brain disorders are also diagnosed, which are accompanied by the occurrence of neurological symptoms.
  4. Sickle anemia leads to a significant suppression of the body's defenses. This condition is accompanied by an increased risk of developing infections. When the pathogen enters the bloodstream, it actively reproduces, which often ends in a septic process.

Risk of complications

If left untreated, the disease leads to the death of patients. This is associated both with the occurrence of severe respiratory failure and with damage to various internal organs. Thromboembolism developing in the brain is accompanied by a stroke, and when the coronary arteries are blocked, it leads to instant death.

Detection of pathology in adults and children

The basis for confirming anemia is blood tests. In most cases, the diagnosis can be made by a smear, which notes the presence of characteristic changes in the shape of red blood cells. The sodium pyrosulfite test is also highly specific. This substance helps to “pull” oxygen from red blood cells. A similar cascade of reactions is accompanied by the formation of sickle cells in patients.

To determine the general condition of the body, biochemical tests are also used, which indirectly indicate the severity of anemia, the function of the liver, kidneys and spleen. Determining the type of hemoglobin using electrophoresis is also effective. Ultrasound, which allows you to take photos of various structures located in abdominal cavity, is used to visualize splenomegaly, vascular damage and impaired blood flow in the extremities, which also indicates the presence of pathology.

A special place in the diagnosis of sickle cell anemia is occupied by its identification in children. The sooner doctors detect the problem, the more effective treatment will be. Doctors also insist on conducting studies on young patients even before birth.

Prenatal screening

Plays an important role in preventing the development of the disease proper planning pregnancy. Parents living in areas endemic to malarial plasmodium, genetic testing is recommended to determine the presence of mutations. These tests are based on hemoglobin electrophoresis. It helps to identify carriers of pathology. Prenatal screening is also justified, which consists of analyzing DNA taken from chorionic villi or obtained during amniotic fluid collection. It allows you to diagnose the disease at a stage when termination of pregnancy or early treatment of the lesion is possible.

Neonatal screening

Screening newborns for sickle cell disease plays a role important role V further treatment disorders. Diagnosis is based on genetic tests. If there is a positive result, early antibiotic therapy is carried out, which helps prevent severe infections and septic processes.

Treatment methods

Therapy is symptomatic and aimed at preventing the development of complications. It is based on intravenous infusions, the use of antibiotics and blood transfusions. Painkillers are used, as well as drugs that prevent active thrombus formation. In case of severe shortness of breath, oxygen therapy is justified. To the number surgical methods Treatment of the disease includes splenectomy - removal of the spleen.

The only drug approved by international associations to combat sickle cell disease is hydroxyurea. Double-blind, randomized, placebo-controlled studies were conducted that confirmed the effectiveness of use of this substance. Its uniqueness is that when introduced into the body, the compound promotes the synthesis of the fetal form of hemoglobin. A similar cascade of reactions is accompanied by a decrease in the number of deformed red blood cells. Unfortunately, hydroxyurea has many side effects, which limits its use.

A number of patients benefit from a bone marrow transplant, which takes on the task of synthesizing new blood cells. However, the effectiveness of this method is low, and the procedure for selecting a donor is lengthy and expensive. The main treatment for sickle cell anemia is antibiotics and painkillers, mainly non-steroidal anti-inflammatory drugs, which help reduce fever in patients suffering from infections and septicemia. Folic acid is recommended for use in all cases of severe anemia, since the substance takes an active part in hematopoiesis.

Prognosis and prevention

The outcome depends on the intensity of the manifestation clinical signs, as well as the presence of complications. With properly selected therapy, it is possible to achieve a high quality of life for patients. It will only be necessary to introduce restrictions aimed at preventing the occurrence of infections and deterioration of a person’s condition.

Prevention comes down to planning pregnancy and preventing the development of bacterial and viral diseases that can cause sickle cell anemia.

Caused by a genetic defect in which the formation of normal hemoglobin compounds in red blood cells is disrupted.

Normally, red blood cells are flexible, round, and move easily through blood vessels. In the presence of SCD, red blood cells lose flexibility, become sticky, take on a shape resembling a sickle or crescent (hence the name of the disease), from which they quickly collapse and get stuck in the blood vessels.

As a result, the delivery of oxygen to the organs and systems of the body is slowed down or completely blocked. This causes a variety of serious conditions, including fatal outcome.

How does human sickle cell anemia manifest, symptoms, treatment, what are the causes of the disease? Let's talk about it:

Why does sickle cell anemia occur in humans, what are its causes?

Sickle cell disease in humans is one of the most severe types of anemia, and it is also inherited. The cause of the disease is a gene defect. If both parents are carriers of the “wrong” gene, there is a 25% chance that it will be passed on to their children, and in half the cases they will only inherit a predisposition to the disease.

If only one of the parents has such a gene, there is no risk of the child inheriting SCD. However, there is approximately a 50% chance that a child will inherit one gene for this disease.

How does human sickle cell anemia manifest, what are its symptoms?

Children under 5 years old:

The first signs of the disease begin to appear after six months from the birth of the child. A vaso-occlusive crisis develops, in which sickle cells cause blockage of small vessels, interfering with normal blood flow, causing damage to tissues and organs. As a result, the baby experiences severe pain abdominal area, bones and muscles. Externally, the onset of the disease manifests itself in pale skin and jaundice. The urine becomes dark and your body temperature may rise.

In addition, the child’s hands and feet become swollen, and touching them causes pain. Observed muscle weakness, the curvature of the limbs begins. The grown-up baby does not want to stand and refuses to walk. In all other respects, the child, as a rule, does not have any significant health problems. Except, perhaps, for frequent infectious diseases.

When curved red blood cells clog the vessels of the spleen, which is responsible for clearing the bloodstream of harmful bacteria, the normal function of the organ is disrupted. Therefore, during the first years of life, the child’s body becomes especially susceptible to infections. The risk of developing (fatal blood poisoning) increases significantly.

If one or more of these signs are present, parents need to show the baby to the doctor as soon as possible. This will help avoid life-threatening consequences.

School age children

Sickle cell anemia in children of this age is manifested by a periodic process of blockage of the vessels (capillaries) of the large bones. Usually this phenomenon does not cause serious problems and is expressed only not very strongly, aching pain in the bones.

As the child grows and develops, pathological process spreads to other organs and tissues. In particular, blockage of blood vessels in the lungs leads to the development of severe respiratory disease. The most serious complication is blockage of blood vessels in the brain, which can lead to. However, this complication is quite rare - in 10% of cases.

Adolescence

A characteristic feature of the manifestation of the disease in adolescents is a delay physical development, approximately for 2-3 years. Adolescents with sickle cell anemia are typically shorter than their peers and their sexual development is delayed.

Adult patients

In adult patients, the disease manifests itself chronically, or due to blockage of the capillaries of these organs. Moreover, such a blockage carries chronic form, can be long-term or permanent. In some cases, if not taken necessary measures treatment, serious complications develop, including death.

In addition to the described signs, pathology can give symptoms that vary in frequency of manifestation, as well as severity. Bone crises can occur quite often.

Common symptoms of human sickle cell disease

Let's list the most typical general symptoms diseases observed in patients of different ages:

Symmetrical painful tumors of the joints of the limbs, back and abdomen;
- frequent urination at night, increased fatigue;
- frequent infectious diseases, jaundice of the skin, sclera of the eyes;

During periods of remission, when there is no next crisis, most patients live as usual, normal life. However, in some patients suffering, in particular, from capillary blockage retina, vision deterioration progresses, which can ultimately lead to complete blindness.

It should also be noted that the described complications of sickle cell anemia: frequent bone crises and infectious diseases, renal and pulmonary failure, as well as blindness, extremely rarely occur all at once in one patient.

How is human sickle cell anemia corrected, and what is its effective treatment?

This pathology is treated by a hematologist. Unfortunately, sickle cell anemia cannot be completely cured today. The only one effective technique is a bone marrow transplant. However, finding a donor is quite difficult, and in addition, during the operation there are serious risks for the patient, including fatal ones.

Nevertheless, timely diagnosis SCA is extremely important for the successful treatment of other pathologies that develop in patients against its background, as well as providing patients with adequate, necessary surgical and obstetric care. Of course, a timely diagnosis and prescribed treatment are necessary to stabilize the patient’s condition, prevent severe crises, the development of serious complications, and therefore prolong his life.

Basic therapeutic techniques:

When acute crisis accompanied by painful sensations, use non-narcotic analgesic drugs, for example, or.

In case of severe, unbearable pain during a crisis, the patient is treated in a hospital setting using narcotic analgesics. As the condition stabilizes, they switch to non-narcotic drugs. During treatment, the possibility of dehydration and acidosis must be taken into account.

Maintenance therapy is carried out, which consists of transfusions of washed or thawed red blood cells, and the use of anticoagulants.

During development infectious disease, while there are no results of laboratory bacteriological testing, prescribe antibacterial drugs, active bacteria Streptococcus pneumoniae or Haemophilus influenzae.

Bone marrow transplantation is performed.

During an exacerbation of the disease, in the presence of a crisis, bed rest is indicated. In order to prevent possible complications, reducing pain, the patient is prescribed oxygen therapy. If necessary, intravenous infusions of the necessary drugs are carried out.

For supporting immune system, strengthening the body, and also in order to reduce the risk of complications, you can use traditional medicine recipes. Undoubtedly, ethnoscience alone cannot cure sickle cell anemia. However, her simple techniques, together with compliance medical recommendations, will allow you to maintain a state of remission.

Folk remedies to strengthen the immune system, improve general condition, normalize hemoglobin levels:

To strengthen the body, for speedy recovery after illness, traditional healers suggest using this remedy: mix together 1 glass of freshly squeezed pomegranate juice and half a glass of freshly prepared lemon, carrot and green apple juice. Pour the mixture into a jar of suitable volume, into which add another half glass of May honey. Shake everything thoroughly, close the neck with a lid, and store in the cold. Drink a quarter glass three times a day. It is recommended to warm up the required volume a little before using.

You can prepare another very effective remedy for strengthening the immune system, improving blood quality, normalizing hemoglobin: wash well, dry on a towel a glass of dried fruits: dried apricots, figs, prunes and dark raisins (you can take a mixture of dark and light). Add 2-3 ground together with (the seeds must be removed) and a glass of honey. Mix everything thoroughly. Eat 1 tbsp. l. 3-4 times a day.

Very good remedy Garlic helps strengthen the body's defenses. You can simply increase your consumption or cook it garlic tincture, which will help cleanse blood vessels, improve general state, promotes rejuvenation: peel, cut into pieces 300 g of fresh garlic. Place a suitable jar, add 1 liter. drinking alcohol. Close tightly and place in dark place for 3-4 weeks. Take 1 tsp of the finished, already strained product with a sip of milk.

Helpful Tips for Staying Healthy with SCD

Observe healthy diet including fortified foods. To Bone marrow actively produced red blood cells, it is necessary to consume foods rich in folic acid: leeks, parsley, spinach, wild garlic and lettuce leaves, as well as nuts, legumes, cabbage and yeast. On the advice of a doctor, you can take medications.

Increase your consumption of fresh foods rich in bioflavonoids and antioxidants: dark-colored vegetables, fruits, berries (dark grapes, prunes, cherries, currants, blueberries, beets, eggplants, etc.).

Avoid dehydration: drink enough fresh water, as well as juices, compotes, etc. Dehydration in SCD is dangerous, as it promotes the production of sickle cells and increases the risk of developing a crisis. Drink especially more if you exercise or live in a dry, hot climate.

Do not overheat or overcool, avoid stressful conditions. These phenomena can contribute to the development of a crisis.

Regularly engage in physical exercise or feasible sports, but without excessive zeal, avoid overload.

When treating other diseases, use medications carefully and carefully. Some drugs have a constricting effect on blood vessels, which further impedes the movement of red blood cells. For example, the well-known decongestant drug Pseudoephedrine has this property.

In conclusion of our conversation, it should be noted that sickle cell anemia cannot be prevented, since the disease is classified as genetic. Therefore, at the stage of pregnancy planning, spouses who have the “wrong gene” are recommended to seek advice from a geneticist.

If you suspect SCA, you should undergo a diagnosis in time and begin treatment. Accurate adherence to medical prescriptions and careful attention to one’s own health significantly increases the patient’s quality and life expectancy. Be healthy!

Svetlana, www.site
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