thalassemia major

thalassemia major The most serious form of beta thalassemia, in which there is a mutation in both of the beta globin chains of hemoglobin. This leads to underproduction or absence of beta chains, underproduction of hemoglobin, and profound anemia. Children with thalassemia major seem entirely normal at birth because at birth they still have predominantly fetal hemoglobin, which does not contain beta chains. The anemia emerges in the first few months of life and becomes progressively more severe, leading to pallor, fatigue, failure to thrive, bouts of fever due to infections, and diarrhea. The gene for thalassemia major is relatively frequent in people of Mediterranean origin. Children with thalassemia major inherit one thalassemia gene from each parent. Treatment based on blood transfusions is helpful but not curative. Also known as beta thalassemia, Cooley anemia, and Mediterranean anemia. See also thalassemia.