3. Thalassemia: Alpha & Beta Thalassemia's, Genetics, Pathophysiology, Diagnosis & Treatment

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Thalassemia: Understanding Alpha & Beta Thalassemia

Thalassemia encompasses a group of inherited blood disorders characterized by reduced or absent synthesis of globin chains, leading to ineffective erythropoiesis and hemolytic anemia. Alpha and Beta thalassemia are the two main types, each with distinct genetic mutations affecting the α and β globin genes, respectively. 💉 In alpha thalassemia, there is a deficiency in alpha globin chain production due to deletions or mutations in the HBA1 and HBA2 genes on chromosome 16, leading to excess beta globin chains and subsequent red blood cell destruction. Beta thalassemia results from mutations in the HBB gene on chromosome 11, causing reduced or absent beta globin chain synthesis and accumulation of unpaired alpha globin chains, leading to oxidative damage and hemolysis. Diagnosis involves hematological evaluation, hemoglobin electrophoresis, and genetic testing to identify specific mutations. Treatment strategies include blood transfusions to alleviate anemia, iron chelation therapy to prevent iron overload, and bone marrow transplantation for severe cases. Comprehensive understanding of the genetics, pathophysiology, diagnosis, and treatment of thalassemia is crucial for effective management and improved patient outcomes.

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