Hemoglobinopathies

Description

Hemoglobinopathies are inherited disorders caused by mutations in the globin genes, leading to abnormal hemoglobin structure or production. Common types include sickle cell disease, where a mutation causes hemoglobin S formation, and thalassemias, characterized by reduced synthesis of alpha or beta globin chains. These disorders cause anemia, hemolysis, and impaired oxygen delivery. Symptoms vary from mild to severe, including fatigue, jaundice, and organ damage. Diagnosis involves hemoglobin electrophoresis and genetic testing. Management includes transfusions, hydroxyurea, and sometimes bone marrow transplantation.