alpha-thalassemia major
Alpha-thalassemia major is a severe blood disorder caused by mutations in the HBA1 and HBA2 genes, which are responsible for producing alpha globin chains. This condition leads to a significant reduction in the production of these chains, resulting in an imbalance of hemoglobin and severe anemia. Individuals with alpha-thalassemia major often require regular blood transfusions and may experience complications such as fatigue, weakness, and growth delays.
The disorder is inherited in an autosomal recessive pattern, meaning that a child must inherit two mutated copies of the gene—one from each parent—to develop the condition. Diagnosis typically involves blood tests that assess hemoglobin levels and genetic testing to identify mutations. Early detection and management are crucial for improving the quality of life for affected individuals.