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Article

A single point mutation is the cause of the Greek form of hereditary persistence of fetal haemoglobin.

Nature - 6 Aug 1992

Berry M, Grosveld F, Dillon N

Abstract excerpt

In normal humans the fetal stage-specific gamma-globin genes are silenced after birth and not expressed in the adult. Exceptions are seen in cases of hereditary persistence of fetal haemoglobin (HPFH). These are clinically important because the elevated levels of gamma-globin can alleviate beta-thalassaemia and sickle cell anaemia. One class of mutations is associated with point mutations in the promoter of the...

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Identifiers

PMID: 1379347
DOI: 10.1038/358499a0

Genes

GATA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A single point mutation is the cause of the Greek form of hereditary persistence of fetal haemoglobin.PMID 1379347Read ↗

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

Analysis of the mechanism of action of non-deletion hereditary persistence of fetal hemoglobin mutants in transgenic mice.Semantic proximity Read ↗

T to C substitution at -175 or -173 of the gamma-globin promoter affects GATA-1 and Oct-1 binding in vitro differently but can independently reproduce the hereditary persistence of fetal hemoglobin phenotype in transgenic mice.Semantic proximity Read ↗

Molecular Basis of Hereditary Persistence of Fetal HemoglobinSemantic proximity Read ↗

G gamma-196 C-->T, A gamma-201 C-->T: two novel mutations in the promoter region of the gamma-globin genes associated with nondeletional hereditary persistence of fetal hemoglobin in Greece.Semantic proximity Read ↗

G gamma A gamma (beta+) hereditary persistence of fetal hemoglobin: the G gamma -158 C-->T mutation in cis to the -175 T-->C mutation of the A gamma-globin gene results in increased G gamma-globin synthesis.Semantic proximity Read ↗

Molecular analysis of the human fetal-to-adult globin switching.Semantic proximity Read ↗

Fetal hemoglobin expression in the compound heterozygous state for -117 (G-->A) Agamma HPFH and IVSII-745 (C-->G) beta+ thalassemia: a case study.Semantic proximity Read ↗

G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin.Semantic proximity Read ↗

A new type of hereditary persistence of fetal haemoglobin (HPFH): HPFH Tunisia beta + (+C-200)G gamma.Semantic proximity Read ↗

A haemoglobin switching activity modulates hereditary persistence of fetal haemoglobin.Semantic proximity Read ↗

High levels of human gamma-globin are expressed in adult mice carrying a transgene of the Brazilian type of hereditary persistence of fetal hemoglobin ((A)gamma -195).Semantic proximity Read ↗

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