Hb H disease caused by a homozygosity for the AATAAA-->AATAAG mutation in the polyadenylation site of the alpha 2-globin gene: hematological observations.

doi:10.1159/000204657

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Article

Hb H disease caused by a homozygosity for the AATAAA-->AATAAG mutation in the polyadenylation site of the alpha 2-globin gene: hematological observations.

Acta haematologica - 1 Jan 1992

Fei Y J, Oner R, Bözkurt G, Gu L H, Altay C, Gurgey A, Fattoum S, Baysal E, Huisman T H

Abstract excerpt

We have identified 7 patients with Hb H disease as homozygotes for a mutation in the polyadenylation site (AATAAA-->AATAAG) and have compared their hematological data with those of Hb H patients having other types of alpha-thalassemia determinants. All 7 patients exhibited moderate anemia with microcytosis and hypochromia being similar to that observed in the other patients. Relatives with a heterozygosity for...

Topics

Adolescent
Adult
Base Sequence
Child
Consanguinity
Erythrocyte Indices
Female
Fetal Hemoglobin
Globins
Hemoglobin A2
Hemoglobin H

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Heterozygote

Homozygote

Humans

Male

Molecular Sequence Data

Mutation

Poly A

Source

Open in PubMed

Identifiers

PMID: 1281602
DOI: 10.1159/000204657

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1281602-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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