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Article

A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin.

Nature - 1 Jan 2000

Collins F S, Metherall J E, Yamakawa M, Pan J, Weissman S M, Forget B G

Abstract excerpt

Hereditary persistance of fetal haemoglobin (HPFH) is a benign condition characterized by the production in adulthood of more than 1% fetal haemoglobin (HbF, alpha 2 gamma 2) in the absence of erythropoietic stress. Several genetic types have been discerned based on the level of HbF produced, the relative contributions of the duplicated fetal (G gamma and A gamma) globin genes, and the presence or absence of...

Topics

Base Sequence
DNA
Fetal Hemoglobin
Globins
Hemoglobinopathies
Humans
Mutation
Pedigree
Promoter Regions, Genetic
Thalassemia

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 2578620
DOI: 10.1038/313325a0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2578620-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin.PMID 2578620Read ↗

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