Two Novel Mutations (HBG1: c.-250C > T and HBG2: c.-250C > T) Associated With Hereditary Persistence of Fetal Hemoglobin

摘要

Mutations within the promoters of either of the gamma-globin genes [(G)gamma (HBG1) and (A)gamma (HBG2)] lead to variably increased levels of fetal hemoglobin (Hb) (Hb F, alpha 2 gamma 2) in the syndrome of hereditary persistence of fetal Hb (HPFH). Carriers of such mutations are clinically asymptomatic and the mutations are usually detected as part of routine screening or family studies. We describe two new nondeletional HPFH mutations, both C>T substitutions at position c.-250, one in the HBG1 and the other in the HBG2 globin gene promoters.