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Article

A new hereditary persistence of fetal hemoglobin deletion has the breakpoint within the 3' beta-globin gene enhancer.

Blood - 15 Feb 1990

Camaschella C, Serra A, Gottardi E, Alfarano A, Revello D, Mazza U, Saglio G

Abstract excerpt

A new deletion of the beta-globin gene cluster has been characterized in two Italian brothers who are heterozygous carriers of a G gamma A gamma hereditary persistence of fetal hemoglobin (HPFH). Restriction endonuclease mapping and DNA sequencing of the region encompassing the breakpoint show that the deletion starts 3.2 kilobases (kb) upstream from the delta gene and ends within the enhancer region 3' to the...

Topics

Adult
Base Sequence
Beta-Globulins
Blotting, Southern
Chromosome Deletion
DNA
Enhancer Elements, Genetic
Fetal Hemoglobin
Gene Amplification
Hemoglobinopathies
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Phenotype

Source

Identifiers

PMID: 1689188

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1689188-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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A new hereditary persistence of fetal hemoglobin deletion has the breakpoint within the 3' beta-globin gene enhancer.PMID 1689188Read ↗

Molecular Basis of Hereditary Persistence of Fetal HemoglobinSemantic proximity Read ↗

The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter.Semantic proximity Read ↗

A role for the distal CCAAT box of the gamma-globin gene in Hb switching.Semantic proximity Read ↗

Synergistic effect of two β globin gene cluster mutations leading to the hereditary persistence of fetal hemoglobin (HPFH) phenotype.Semantic proximity Read ↗

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

Disrupting the adult globin promoter alleviates promoter competition and reactivates fetal globin gene expressionSemantic proximity Read ↗

Activation of γ-globin gene expression by GATA1 and NF-Y in hereditary persistence of fetal hemoglobinSemantic proximity Read ↗

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

3'HS1 CTCF binding site in human β-globin locus regulates fetal hemoglobin expression.Semantic 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 ↗

Increased expression of the G gamma and A gamma globin genes associated with a mutation in the A gamma enhancer.Semantic proximity Read ↗

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