Population screening, molecular confirmation, and prevalence of hemoglobin H disease among newborns in California

Hb H disease is caused by mutations involving three a-globin genes, resulting in absent a-globin chain production from them. Each patient has only one normal a-globin gene, moderate anemia, but generally is well. During infections, oxidative drug therapy, or pregnancies, the anemia can become severe enough to warrant transfusions. In adults the excess β-globin chains form β4 tetramers (Hb H). In newborns, the excess y-globin chains form y4 …