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Article

Interaction of heterozygous beta (0)-thalassemia and triplicated alpha globin loci in a Swiss-Spanish family.

Klinische Wochenschrift - 2 Oct 1991

Beris P, Darbellay R, Hochmann A, Pradervand E, Pugin P

Abstract excerpt

We report a Swiss-Spanish family three members of which have the clinical picture of thalassemia intermedia. Restriction endonuclease mapping of the alpha-globin cluster and digestion with Mae I of the in vitro amplified 5' segment of the beta-globin gene shows a combination of triplicated alpha globin locus, anti-3.7 kb type, with heterozygous codon 39 C----T beta (0) thalassemic mutation. These, as well as 16...

Topics

Adult
Chromosome Mapping
Female
Genotype
Globins
Humans
Male
Mutation
Pedigree
Polymerase Chain Reaction
Thalassemia

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Identifiers

PMID: 1795494
DOI: 10.1007/BF01649440

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1795494-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Interaction of heterozygous beta (0)-thalassemia and triplicated alpha globin loci in a Swiss-Spanish family.PMID 1795494Read ↗

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