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Article

Two different mutations in codon 68 are observed in Hb G-Philadelphia heterozygotes.

American journal of hematology - 1 Apr 1994

Molchanova T P, Pobedimskaya D D, Ye Z, Huisman T H

Abstract excerpt

Through sequencing of amplified DNA containing the appropriate alpha-globin genes we have identified the base substitution leading to the formation of Hb G-Philadelphia [alpha 68(E17)Asn Lys]. Three subjects (approximately 25% Hb G) had an ACC AAA change at codon 68 of the alpha 2-globin gene; th...

Topics

Adult
Codon
DNA
Female
Gene Deletion
Globins
Hemoglobins, Abnormal
Heterozygote
Humans
Infant
Infant, Newborn
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

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Identifiers

PMID: 8178806
DOI: 10.1002/ajh.2830450414

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8178806-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Two different mutations in codon 68 are observed in Hb G-Philadelphia heterozygotes.PMID 8178806Read ↗

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Molecular interactions between Hb alpha-G Philadelphia, HbC, and HbS: phenotypic implications for SC alpha-G Philadelphia disease.Semantic proximity Read ↗

Haemoglobin (Hb) G-Philadelphia, Hb Stanleyville-II, Hb G-Norfolk, Hb Matsue-Oki and Hb Mizushi can form a panel of α-chain variants that overlap in their phenotype: the novel use of StyI to screen for Hb G-Philadelphia.Semantic proximity Read ↗

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