Alpha-Thalassemia Major
Alpha-Thalassemia Major is a severe blood disorder caused by a genetic mutation that affects the production of hemoglobin, the protein in red blood cells that carries oxygen. Individuals with this condition typically inherit two defective copies of the alpha-globin gene from each parent, leading to a significant reduction in alpha-globin production. This results in severe anemia, which can cause fatigue, weakness, and other health complications.
Diagnosis usually occurs in infancy or early childhood through blood tests that reveal low hemoglobin levels and abnormal red blood cell shapes. Treatment options may include regular blood transfusions, iron chelation therapy, and in some cases, a bone marrow transplant. Early intervention is crucial for managing symptoms and improving quality of life.