Hb H disease in a Turkish family resulting from the interaction of a deletional alpha-thalassaemia-1 and a newly discovered poly A mutation.

doi:10.1111/j.1365-2141.1992.tb04568.x

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Article

Hb H disease in a Turkish family resulting from the interaction of a deletional alpha-thalassaemia-1 and a newly discovered poly A mutation.

British journal of haematology - 1 Apr 1992

Yüregir G T, Aksoy K, Cürük M A, Dikmen N, Fei Y J, Baysal E, Huisman T H

Abstract excerpt

We have analysed the alpha-globin gene defects present in several members of a large family from Southern Turkey. One deletional alpha-thalassaemia-1 (type MED-II) was found in 10 subjects: this deletion is in excess of 26.5 kb and includes all zeta- and alpha-globin genes. Besides the common typ...

Topics

Adolescent
Adult
Base Sequence
Child
Child, Preschool
Chromosome Deletion
DNA
Female
Globins
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation
Nucleic Acid Amplification Techniques
Pedigree
Poly A
Thalassemia

Source

Open in PubMed

Identifiers

PMID: 1581238
DOI: 10.1111/j.1365-2141.1992.tb04568.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1581238-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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