title: Two novel mutations (HBG1: c.-250C > T and HBG2: c.-250C > T) associated with hereditary persistence of fetal hemoglobin.
abstract: Mutations within the promoters of either of the γ-globin genes [(G)γ (HBG1) and (A)γ (HBG2)] lead to variably increased levels of fetal hemoglobin (Hb) (Hb F, α2γ2) 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.
authors.affiliation: Department of Haematological Medicine, King's College Hospital National Health Service (NHS) Foundation Trust , London , UK.
authors.forename: Sarmad
authors.initials: S
authors.lastname: Toma
authors.forename: María
authors.initials: M
authors.lastname: Tenorio
authors.forename: Matthew
authors.initials: M
authors.lastname: Oakley
authors.forename: Swee Lay
authors.initials: SL
authors.lastname: Thein
authors.forename: Barnaby E
authors.initials: BE
authors.lastname: Clark
mesh_terms: D004252:DNA Mutational Analysis; D005319:Fetal Hemoglobin / Q000235:genetics*; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D011401:Promoter Regions, Genetic; D055545:gamma-Globins / Q000235:genetics*
chemical_list: D055545:gamma-Globins; D005319:Fetal Hemoglobin