Sickle cell anemia. Causes, symptoms and treatment, mode of inheritance, it is, biochemistry

Sickle cell anemia type - is a chronic disease of the blood that is associated with the violation of the structural protein structure of hemoglobin. When studying the biological material under the microscope the impression that they are composed of many small crystals.

In hematology disease still called the medical term - hemoglobinopathies. The disease has a genetic etiology and transmitted to children with genetic information from the mother or father.

Patients with sickle cell anemia also have an unusual shape of blood cells - red blood cells, which perform the function of transporting hemoglobin. They have the shape of a crescent, or sickle, for the disease and received its name.

Sickle-cell anemia is associated with the type of mutation processes in the HBB gene. Because of this pathology in the human body starts to synthesize abnormal hemoglobin S, and must be produced protein class, which serves as a high-grade delivery of molecules oxygen.

Under the influence of adverse factors in the environment, or else associated with stress loads on the body of the carrier of the mutated gene occurs hemoglobin polymerization Class S.

This proteinaceous compound forms elongated strands, whereby the blood cells form the cell elongated crescent shape. Inheritance of sickle-cell anemia occurs in an autosomal recessive manner, but without a complete dominance of the gene that was subjected to mutational changes.

types of diseases

Sickle cell anemia is an independent type of hematological disease that is associated with a change in the structure of red blood cells and protein compounds in the form of hemoglobin. Pathology is not separately allocated subtypes or species diversity.

Stage and grade

Sickle cell anemia can occur entirely asymptomatically, without disturbing the carrier mutated gene or the manifest chronic hypoxia shape feeling of shortage of oxygen from the first days of life person. The severity of this disease depends on the degree of gene mutations NVV and volume of genetic information obtained from the parents.

The table below lists the severity of sickle-cell anemia:

The degree of severity	The clinical picture of disease manifestations
first	The patient does not experience a pathological deficiency symptoms in the modified red blood cells and abnormal hemoglobin S. The disease manifests itself only occasionally during exercise, perform heavy physical exertion associated with a raised load, active movement.
second	A person with sickle cell anemia experiencing chronic fatigue and the decline of physical strength. Its independent movement in the distance beyond 200 m is not possible due to the fact that there is a feeling tired quickly and lack of air. To restore the normal supply of the internal organs, muscle fibers and tissues of the brain cells need a long rest and recovery.
third	For chronic fatigue syndrome and persistent anemia, joining soft tissue swelling. The patient suffers from a chronic inflammation of the joints of the upper and lower extremities, who have symptoms of autoimmune arthritis. Increased tendency to colds and infectious diseases that most often affect the patient's body during the fall and spring seasons.
fourth	The most severe form of the degree course of sickle cell anemia. The patient developed a radical change in the biochemical composition of the blood. There are multiple thrombosis in blood vessels internal organs. Reduced their functional ability. There are multiple internal bleeding and tissue injury. In most cases, the patient suffers from severe hypoxia, all the while experiencing shortage of air and is bedridden.

Sickle-cell anemia, located 3 or 4 severity of the patient could lead to disability and even cause the onset of death.

The disease 1 and 2 severity gives relatively good prognosis for preservation optimal quality of life, but only on condition that the human body is not subjected to heavy physical stress.

symptoms

Symptoms of sickle cell disease are manifested in two basic types of pathological conditions. In the first case of the disease symptoms may be only oxygen starvation, and shortness of breath fatigue, indicating a decline in transport function of hematological cells - erythrocytes.

The second type of symptoms of the disease is associated with the destruction of red blood cells due to their increased fragility. In this case, there are multiple thrombosis and hemorrhage in the tissues of the internal organs.

The most experienced hematologists who are professionals in the diagnosis and treatment of sickle-cell anemia, can not describe a standard set of symptoms that are present in a patient with this disease. The disease has a wide spectrum of biochemical signs, hematology changes and general dysfunction of internal organs and body systems.

The table below details the symptoms of sickle-cell anemia all who met in practice, hematologic, and describes their clinical manifestations.

name symptom	Characteristic features of display
Anemia	In patients with sickle cell disease at 5-10 units reduced rate of hemoglobin. During hemolytic crisis, when the concentration of blood cells drops to critical indicators, joins improving body temperature (38-39 degrees Celsius), the color tint varies with urine natural yellow to brown or saturated all black. To eliminate the symptoms of anemia patient takes medicines, complementary iron deficiency.
Attacks of severe pain in the muscles and bone	Change blood chemistry and structure of the hemoglobin protein compounds give rise to bouts of aching pain and body aches. Most of all this symptom affects muscle fibers and lower extremity bones. The affected area is the bone and connective tissue of the joints.
Bacterial, viral and fungal infections	Due to changes in the qualitative composition of blood, in a fall in hemoglobin level and general weakening of the body, decreasing the protective function of the immune system. The patient becomes prone to frequent bacterial, viral and fungal infestations. Even after a slight hypothermia symptoms of colds, increases body temperature, local inflammatory processes develop in the larynx, the upper and lower respiratory ways. A transition of a bacterial infection in a chronic course.
Thrombus formation in the tissues of the liver and spleen	Erythrocytes which have an irregular structural form, in addition to this differ increased fragility. Damaged blood cells within the narrow vascular ducts of the liver and spleen, blood clots to accumulate and form a dense thrombi. After the occurrence of this symptom immediately disrupted all the organs of the gastrointestinal tract. Dysfunction of liver tissue results in jaundice of the skin, lack of appetite and proper functioning of the digestive system.
heart and lung injury	During operation, the lungs and the heart muscle increases the risk of clogging of the capillaries. If this happens, the tissue where there was damage to red blood cells sickle-shaped, formed local hemorrhage. In the case of infection with bacterial pathogens in tissues of these organs may occur foci of chronic infection. Such injuries can cause death, development of lung or heart failure
The emergence of ulcer formation in the lower extremities	Damaged erythrocytes irregular shape results in the formation of blood clots in lower extremities. This leads to the fact that impaired local blood circulation in the legs. Develops severe venous insufficiency. This pathological condition causes damage to major vessels of their walls, lymph loss and formation of trophic ulcers. Wounds of this type do not heal, even assuming that the patient is receiving special medical treatment. Sores tend to increase in size and cover the deeper tissues of the lower extremities.
Necrosis, conjugate with the rapid development of sepsis	Tissue and blood vessels that are damaged sickle cell, subjected to thrombosis and deprived of food, gradually begin to die off. Necrosis begins phase which rapidly goes into step strong intoxication and blood poisoning. This symptom may develop within 1-3 days from the time of formation of thrombi plural number or mass of internal organs damages tissue capillaries. The presence of this symptom of sickle-cell anemia indicates a poor prognosis for recovery, and greater likelihood of death.
Irregularities in the organ of vision	When sickle-cell anemia is a disturbance of the blood supply of the retina, as well as other elements of the eyeball. Blood clots and organ damage can lead to a partial reduction in visual acuity, or the cause complete blindness.
Anomalies of physical development	People who inherit sickle cell anemia from their blood relatives, did not immediately feel the signs of disease manifestations. Newborn babies up to 3 months. can develop without any obvious abnormalities. Then there may be the curvature of the bones of the upper and lower extremities and spine. It is not excluded deformation of the cranium and jaw apparatus. Throughout the rest of their lives, patients with sickle cell disease, lag behind in physical development. Adolescents begin late puberty. On average, the lag is within 3 years.

Depending on what other mutated genes that disrupt the blood-forming system, inherited the patient may experience other equally dangerous symptoms. All of the above signs of disease shall be established by the attending physician in the inpatient ward.

Causes of

Sickle cell anemia - a genetic disease that is hereditary nature of origin. It can occur in conditions 1 and 2 severity without entering step hemolytic crisis or without the existence of other more severe symptoms.

The emergence of more extensive signs of the disease may be caused by the following factors:

• heavy physical labor;
• athletic exercises;
• alcohol abuse, smoking, intake of narcotic drugs
• It rises to a height of more than 1500 m, where there is a lack of oxygen;
• dehydration;
• Prolonged exposure to direct sunlight;
• conflict situations and psycho-emotional strain.

Any stress factor can serve as an impetus to the exacerbation of the disease, the emergence of hemolytic kriza with damage to internal organs, the formation of thrombi and prolonged dysfunction systems body.

Diagnostics

Sickle cell anemia is a dangerous pathology of blood and hematopoietic system, which requires a comprehensive diagnosis of the whole organism.

A patient who has symptoms of this disease, should undergo the following tests:

• primary inspection by a doctor who listens to the current complaints and symptoms, perform abdominal palpation cavity, bones of the chest and limbs, is the direction of instrumental and laboratory diagnostics;
• Deposit of venous blood for her biochemistry;
• Capillary blood collection for clinical research and selection of red blood cells;
• Deposit morning urine to determine the overall health of the patient;
• ECG to ensure the stability of the heart muscle;
• measurement of blood pressure;
• MRI of the whole body in order to assess the state of health of the blood vessels and internal tissues bodies, which could be damaged by the formation of blood clots and increased fragility erythrocytes.

According to the results diagnostic survey doctor confirms the presence of sickle-cell anemia or refutes a pathological state of blood and hematopoietic system. In public hospitals, the survey is free of charge. In the medical facility with private ownership the average cost of the diagnosis will be from 4000 to 6000 rubles.

When to see a doctor

Appeal to the profile expert to take place in the first 1-2 days after the man found himself the symptoms of sickle cell anemia. Treatment of this disease has been haematologist.

If the clinic is not a doctor in this profile, you should make an appointment with a therapist. Delay in the visit to the doctor is fraught with the development of a large number of complications related to the operation of the cardiovascular, digestive, immune and respiratory systems.

prevention

Prevention of sickle cell anemia can be carried out in two main directions. In the first case - a delivery of blood men and women who wish to conceive a child. In the laboratory conducted DNA analysis of biological material on the possible presence of a mutated gene type RGR and the potential risk of sickle cell anemia in their children together.

The second direction of prevention of disease for the people who already have a history of sickle cell anemia, but without hemolytic crises and exacerbations.

Patients in this category must comply with the following rules of prevention:

• eliminate heavy physical labor;
• avoid stress and psycho-emotional surge;
• every 6 months. Admission pass vitamins course, minerals and immunostimulatory agents;
• renounce the use of alcohol, tobacco and drugs;
• to prevent fatigue of the body;
• sleep at least 8 hours a day;
• balanced diet to include meat, fish, milk products, fresh vegetables, fruits and herbs.

Living with a diagnosis of sickle cell anemia involves constant monitoring of the biochemical composition of the blood. Patients in this category should see a doctor, a hematologist and a monthly take-purpose analysis doctor.

therapies

Therapy for sickle cell anemia comprises applying symptomatic medications that require the presence of specific clinical manifestations of the disease.

Medications

The following formulations may be used for the treatment of sickle-cell anemia:

• erythromycin - an antibacterial agent, which is used to treat infections penetrated into the patient's body as a result of greatly attenuated immunity is assigned 1-2 tablets three times a day for two hours before or after a meal with a course of treatment - 14 days (value medicament - 110 rub.);
• Folic acid - it improves the quality of the blood, reducing the pathological symptoms of anemia, adopted on 5 mg 1 time per day with the course of 1 month. (The price of the drug - 95 rub.);
• aspirin Cardio - assigned to reduce the risk of thrombus formation and organ damage tissue taken 1 1 tablet once a day for 30 minutes. before a meal (the cost of the drug - 180 rub.);
• Gemoferon - liquid suspension, which contains in its composition iron, folic acid and excipients, allowing ease symptoms of anemia, received 1 time per day to 20 ml per 30 min. before a meal (treatment 2-3 months, and the price of the drug -. 420 rub.).

Purpose of the above medicines, final dosage and timing of application should be determined by the attending hematologist.

Traditional methods

Decoctions, infusions and extracts of medicinal plants are not able to have a positive impact on the course of sickle cell anemia. Using the recipes of traditional medicine could lead to a deterioration in the patient's general state of health and cause complications.

Other methods

In combination with drug therapy following treatment methods can be used:

• blood transfusion - a blood transfusion for a short-term improvement of its cellular composition;
• intravenous rehydration - to reduce the likelihood of damage to the blood vessels and thrombosis prophylaxis;
• stem cell transplant - a radical method of treatment, which is used to treat patients with severe degree of the disease.

The above therapies are used only in specialized clinics, blood institutes, hospitals that treat hematological diseases.

possible complications

Lack of timely diagnosis and treatment of a qualified, capable cause the development of these complications and adverse effects on the health of the patient:

• hepatic and renal failure;
• irregular heartbeat;
• myocarditis;
• thrombosis of the pulmonary artery;
• brain stroke;
• visceral tissue necrosis;
• inflammation of connective and bone tissue of the joints with their further deformation;
• pulmonary and cardiac insufficiency;
• blood poisoning;
• death due to thrombosis of major vessels or the internal bleeding.

Sickle cell anemia type - is an inherited genetic disorder that is dangerous to a large number of negative consequences and complications. The disease should be under the constant supervision of a doctor-hematologist. Anemia 1 and 2 reduces the severity of the patient's quality of life but does not lead to irreversible changes in the organism.

Availability 3 and 4 disease severity is the basis for the formation of unfavorable prognosis for recovery and early death in young age.

Registration of the article: Vladimir the Great

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