Beta-thalassemia - a genetic disease in which the construction breaks down beta-chain of hemoglobin. disease symptoms appear in the first year of life. Thalassemia leads to the development of dangerous complications, so the patient needs constant maintenance treatment.
The causes of the disease
The cause of the beta-thalassemia gene mutation is responsible for the production of hemoglobin components. Inheritance occurs as abnormal gene from one parent, and both. The beta chain of hemoglobin in a patient with thalassemia are produced in smaller quantities or not produced at all. Thus the synthesis of other components is not disturbed. Formed unstable protein compound that is accompanied by active decay of erythrocytes. Reduced hemoglobin levels in the blood, iron begins to build up in the internal organs.
clinical picture
symptoms
The main symptoms are:
- jaundice of the skin and mucous membranes (such manifestation associated with the accumulation of bilirubin in the body formed by the decay of erythrocytes);
- pain and ulceration of the skin in the lower limbs;
- gallstone disease, caused by deposition of bilirubin stones in the gall bladder;
- lag in the physical development (patients have a low growth);
- late sexual maturity;
- reduced muscle tone;
- fatigue;
- frequent occurrence of infectious diseases (herpes sores, acute respiratory and intestinal infections, influenza);
- hydrocephalus (similar symptom appears on fetal development stage, the accumulation of cerebrospinal fluid in the ventricles of the brain).
evidence
External signs of disease are different. Their appearance determined by the shape of thalassemia. Children suffering from this genetic disorder, characterized by:
- special shape of the skull (bones form a tower structure, because of which the head becomes a square shape);
- flattened nose bridge (saddle nose);
- Mongoloid eye shape (narrowing contributes to disease canthus);
- protruding upper jaw.
An early sign of thalassemia is considered enlarged liver and spleen. This is facilitated by hemosiderosis and violation of hematopoiesis. In a large number of tissues deposited hemosiderin - pigment produced during destruction of hemoglobin.
Diagnostics
To identify disease using:
- Examination of the patient. It helps to identify the outward signs of the disease and make a preliminary diagnosis.
- General blood analysis. Found marked reduction in hemoglobin levels (30-50 g / l), the presence of poorly stained red blood cells. The degree of saturation of hemoglobin in red blood cells significantly reduced. An increasing number of reticulocytes - of cells that subsequently formed erythrocytes. Found to have elevated serum iron.
- Blood smear. Such research is aimed at the detection of red blood cells with a weak color and small size. The sample contains mishenevidnye cells (red blood cells, with a bright red center and a pale periphery). The cells have different sizes and shapes (detected oval or sickle-shaped erythrocytes).
- Biochemical analysis of blood. Revealed an increase in the content of unbound bilirubin and iron. Reduced serum iron binding ability.
- Hemoglobin electrophoresis using reagents. It helps quantify the hemoglobin components. In homozygous form of pathology immature level of hemoglobin in the adult patient's blood increases.
- Study hemoglobin synthesis in vitro.
- bone marrow puncture. The sample obtained in the course of this procedure has increased the number sideroblasts (erythrocyte precursors having large nucleus).
- X-rays of the bones. When beta-thalassemia skull detected portions with reduced bone density and hypertrophied region (of increased thickness and density). In medicine, such symptom is called a hedgehog or a brush. Small bones of the lower and upper extremities have transverse striations.
- Molecular analysis. Using procedures detect mutations in the beta chain of hemoglobin, preventing the normal development of components.
- Consultation genetics and hematology.
In thalassemia minor changes in the results of laboratory tests have a lower severity than at a large form of the disease.
Classification
Low beta-thalassemia
Shallow disease shape promotes mild anemia (The number of red blood cell and hemoglobin levels in the blood is reduced slightly). There is a hidden type of low beta-thalassemia, not having any symptoms. Detected abnormality in a genetic study of patients at risk.
greater
This severe form of the disease, which is characterized by symptoms such as:
- cirrhosis (healthy tissue is gradually replaced by the connecting body, the liver is broken, which leads to intoxication and death);
- trophic ulcers (arise due to violations of soft tissue of blood supply);
- the defeat of the pancreas (pancreatic tissue is replaced by connective, that often ends with the development of diabetes);
- frequent occurrence of pathological fractures;
- frequent development of bronchitis, pneumonia and sepsis;
- delay in physical development.
interim
This form of thalassemia has a more favorable prognosis than most. Symptoms of the disease appear in adolescence and are less pronounced. Children with intermediate thalassemia do not lag behind in the development of the bones of the skull and the shape of the eyes are normal. The main pathological signs are frequent fractures and splenomegaly, accompanied by increased body activity.
Treatment
Blood transfusion
In severe disease transfused whole blood or packed red blood cells. These measures bring temporary relief. Side effects procedure is to enhance the level of the pigment, which includes iron oxide. A more effective way to stabilize the patient's condition is considered administering the treated erythrocytes. The procedure causes less negative impact. It must be combined with the use of iron chelates.
drug therapy
For the treatment of beta-thalassemia is used:
- Iron chelate. The drug is administered subcutaneously slowly (within 3-6 hours). For this purpose, the pump means, is fixed on the clothes. At high solution form of the disease must be administered several times a week. Treatment is appointed for life. To prevent infection or damage of soft tissue injections change places.
- Glucocorticoids (prednisolone). They are used in the development of hemolytic attacks. Help temporarily eliminate the symptoms that occur against the backdrop of the collapse of the blood cells.
- Hepatoprotectors (CARS). Preparations restore liver cells, slow the progression of cirrhosis. Constant reception helps to avoid the development of hyperbilirubinemia and prolong the patient's life.
- Vitamin C. Drugs Ascorbic acid accelerates the removal of free iron from the body.
Bone marrow transplantation
Bone marrow transplant - the most effective method of treatment of the disease. Introduction of donor material triggers the production of healthy blood cells and helps to permanently introduce the disease into remission. Disadvantages of the method include the high cost of operation and difficulties in finding a donor.
Splenectomy
In marked increase in spleen organ is removed. The operation is not indicated for children younger than 5 years. It is best to do it in 8-10 years. This treatment method has a temporary effect. The patient's condition improved, but a year later the signs of the disease returning. In addition, splenectomy increases the risk of infectious diseases.
Folk remedies
these natural products can be used for the treatment of thalassemia:
- Herbs containing folic acid. The substance is involved in DNA synthesis and development of hematopoietic and immune system. Thalassemia is recommended to take a decoction of nettle leaves or clover. 1 tbsp. l. raw material is boiled in 200 ml of water 10 minutes. Means consume 100 ml 3 times per day.
- Plants rich in zinc. This mineral is essential for the maturation of blood cells, the maintenance of normal bone density. The substance contained in the parsley, rose hips, dandelion leaves. For preparing broth hips require 100 g of dried fruits and 1 liter of water. Means simmered for 15 minutes and drink tea instead. Parsley and dandelion preparing extracts (50 g of raw material is poured 0.5 liters of boiled water for 3 hours). Take 50 ml 3 times per day.
prevention
Prevention of the disease includes:
- Prenatal diagnosis. Persons suffering from a disease during pregnancy planning should be examined by a geneticist.
- Fetoscopy and amniocentesis. These procedures are carried out when there is a thalassemia from both parents. Using the prepared puncture fetal tissue samples that tested genetic research. The procedure is performed under ultrasound guidance. Methods have side effects, they are able to provoke spontaneous abortion, intrauterine infection or premature labor. Upon receipt of the positive results of the woman recommended the termination of pregnancy.
prognosis
Thalassemia minor has a favorable prognosis. Dangerous effects are rare, the majority of patients not in need of constant care. It has a good prognosis and intermediate type of disease, but patients need blood transfusions and constant drug administration, and outputting iron binding. The high number of deaths in this disease is associated with the deposition of the element in the tissues of internal organs.
In severe thalassemia, most of the patients rarely survive to adulthood, death can occur within the first few months of life.
