Thalassemia: An Inherited Blood Disorder - Overview, Inheritance Pattern, Types, Clinical Presentation, Treatment, Genetic Counselling, Pedigree Analysis

Thalassemia is a genetic blood disorder that causes anemia due to the production of abnormal hemoglobin. It is an autosomal recessive disorder with two types: alpha and beta thalassemia. Clinical presentation includes anemia, weakness, abnormal bone growth, muscle fatigue, hepatosplenomegaly, and heart defects. Treatment includes blood transfusions, folate supplements, iron chelating agents, and surgical removal of spleen. Genetic counselling plays a vital role in preventing thalassemia. Pedigree analysis shows that offspring may develop the diseased condition or become a carrier.