Hemoglobinopathies and Genetic Blood Disorders

Hemoglobinopathies and genetic blood disorders are inherited conditions affecting the structure, function, or production of hemoglobin, red blood cells, or other blood components. Common disorders include sickle cell disease, thalassemia, hereditary spherocytosis, and other congenital anemias. These conditions often result from point mutations, deletions, or gene rearrangements affecting globin chains or red blood cell membrane proteins. Biologically, these mutations lead to hemolysis, ineffective erythropoiesis, chronic anemia, and associated complications such as organ damage and increased susceptibility to infections. Diagnostic methods include complete blood counts, peripheral blood smears, hemoglobin electrophoresis, high-performance liquid chromatography (HPLC), genetic sequencing, and molecular analysis. Laboratory instruments such as automated hematology analyzers, HPLC systems, PCR machines, and sequencing platforms enable precise identification of abnormal hemoglobin variants and genetic defects. Advances in prenatal and neonatal screening allow early detection and timely intervention. Therapeutic approaches include supportive care, blood transfusions, iron chelation therapy, hydroxyurea treatment, and emerging curative strategies such as gene therapy and hematopoietic stem cell transplantation. This session aims to provide participants with a detailed understanding of the molecular and genetic basis of hemoglobinopathies, modern diagnostic techniques and instruments, and clinical strategies for managing these lifelong conditions. Knowledge gained from this session supports accurate diagnosis, improved patient care, and the development of personalized treatment plans for individuals affected by genetic blood disorders.

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