HEMOLYTIC DEFICIENCIES (MEMBRANOUS DISEASES, THALASSEMIA)

Аннотация

In this article, we will discuss the main aspects, diagnosis, and treatment methods of membrane pathologies and thalassemia diseases. Spherocytosis, Elliptocytosis, Thalassemias discussed, As a result of studies, it was found that the pathogenetic components of thalassemia (hemic hypoxia, hypersideremia) themselves lead to a decrease incellular and humoral immunityand contributeto an increase in thelevel ofthedisease. Key words: Thalassemias discussed, Hematological deficiencies, hemic hypoxia, Membrane, genetictesting. Hematological defects are represented by functional and morphological disorders of blood and its components. In most cases, these diseases include hereditary diseases such as membrane pathologies and thalassemia. In this article, we will focus on the main aspects, diagnosis and treatment methods of membrane pathologies and thalassemia diseases. Membrane pathologies are associated with disturbances in the structure and function of the erythrocyte membrane. These diseases are often hereditary and arise as a result of mutations in the membrane of anucleated erythrocytes. Hematological defects, especially membrane pathologies and thalassemia, have a significant impact on human health. Their timely detection and proper treatment are of great importance in preventing the severe consequences of the disease. New medical technologies and genetic tests are increasing the guarantee ofsuccess intreating thesediseases. Spherocytosis Spherocytosis is characterized by the loss of the normal disk shape of erythrocytes and their transformation into a sphere. This increases the sensitivity of erythrocytes and reduces their ability to withstand the effects of drugs. Main symptoms: Anemia (blood deficiency), Jaundice(jaundice), Splenomegaly (enlargement of thespleen) Elliptocytosis In elliptocytosis, the red blood cells take on an elliptical or cigar shape. This condition is often asymptomatic, and insomecases leads toanemia. Thalassemia Thalassemia is a hereditary disease associated with a defect in hemoglobin synthesis. It occurs as aresult ofa defect in thesynthesis ofthealpha orbeta chains of hemoglobin. Alpha-thalassemia Alpha-thalassemia is associated with a defect in the synthesis of the alpha globin chains. There are varying degrees ofthisdisease: 98,7:ROTCAFTCAPMI.SECNEICS LACIDEM,5202, yraurbeF,5emuloV gro.srehsilbupcimedaca.www •Incompatibility: May beasymptomatic. •Alpha-thalassemia major: Moderate anemia. •​ ​ HemoglobinH disease: Severe anemia and splenomegaly. Beta-thalassemia Beta-thalassemia is caused by a defect in the synthesis of beta-globin chains. There are three mainforms ofthis disease: •Incompatibility: May beasymptomatic. •Thalassemiaminor: Moderate anemia. • ​ ​ Thalassemia major (Coulley anemia): The most severe form, requiring frequent blood transfusions and ongoing treatment.  Diagnosis Diagnosis of hematological disorders is based on blood tests, genetic tests and molecular medicinemethods: •Blood tests: Hemoglobin, hematocrit, shape andsizeofred bloodcells. •Genetic testing: To detect mutations. •Molecular medicine: To examinethestructureof hemoglobin. 4.Treatment Treatment may vary depending onthetype ofdisease: •Blood transfusion: To correct anemia. • ​ ​ Splenectomy (removal of the spleen): To reduce splenomegaly and rapid destruction ofred bloodcells. •Gene therapy: Torestore hemoglobin synthesis through newmethods Diagnostics Diagnosis of hematological defects is carried out on the basis of blood tests, genetic tests andmolecular medicinemethods: •Blood tests: Hemoglobin, hematocrit, shape andsizeoferythrocytes. •Genetic tests:Identification ofmutations. 98,7:ROTCAFTCAPMI.SECNEICS LACIDEM,5202, yraurbeF,5emuloV gro.srehsilbupcimedaca.www •Methods ofmolecular medicine: Examination ofthestructure ofhemoglobin. The vast majority of patients - 99 (78.2%) suffered from β-thalassemia (hemoglobinopathy), 25 (19.4%) - fermentopathy and 3 (2.4%) patients - microspherocytic anemia. Thalassemia major was characterized bythe following symptoms: regressing anemia with normoblastosis, earthy-icteric coloration of the skin of varying severity, hepatosplenomegaly, hyperbilirubinemia and urobilinuria, osteoporosis, causing peculiar changes in the bones of the face and cranial vault and a sharp lag in sexual and physical development from their peers.