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Article

Two novel mutations (HBG1: c.-250C > T and HBG2: c.-250C > T) associated with hereditary persistence of fetal hemoglobin.

Hemoglobin - 1 Jan 2014

Toma Sarmad, Tenorio María, Oakley Matthew, Thein Swee Lay, Clark Barnaby E

Abstract excerpt

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...

Topics

DNA Mutational Analysis
Fetal Hemoglobin
Hemoglobinopathies
Heterozygote
Humans
Male
Mutation
Promoter Regions, Genetic
gamma-Globins

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 24144231
DOI: 10.3109/03630269.2013.848365

Genes

HBG1
HBG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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