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 [Gγ (HBG1) and Aγ (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 mutat...

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Bibliographic Details
Published inHemoglobin Vol. 38; no. 1; pp. 67 - 69
Main Authors Toma, Sarmad, Tenorio, María, Oakley, Matthew, Thein, Swee Lay, Clark, Barnaby E.
Format Journal Article
LanguageEnglish
Published England Informa Healthcare USA, Inc 01.01.2014
Taylor & Francis
Subjects
DNA Mutational Analysis
Fetal Hemoglobin - genetics
gamma-Globins - genetics
Hemoglobinopathies - diagnosis
Hemoglobinopathies - genetics
Heterozygote
Humans
Male
Mutation
Nondeletional hereditary persistence of fetal hemoglobin (HPFH)
Promoter Regions, Genetic
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Summary:Abstract Mutations within the promoters of either of the γ-globin genes [Gγ (HBG1) and Aγ (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.
Bibliography:ObjectType-Case Study-2
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ISSN:0363-0269
1532-432X
DOI:10.3109/03630269.2013.848365