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Article

Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster.

Blood - 1 Jul 1990

Hatton C S, Wilkie A O, Drysdale H C, Wood W G, Vickers M A, Sharpe J, Ayyub H, Pretorius I M, Buckle V J, Higgs D R

Abstract excerpt

We describe a family in which alpha-thalassemia occurs in association with a deletion of 62 kilobases from a region upstream of the alpha globin genes. DNA sequence analysis has shown that the transcription units of both alpha genes downstream of this deletion are normal. Nevertheless, they fail to direct alpha globin synthesis in an interspecific hybrid containing the abnormal (alpha alpha)RA chromosome. It...

Topics

Animals
Base Sequence
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, Pair 16
Down-Regulation
Genotype
Globins
Humans
Hybrid Cells
Mice

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Phenotype

Thalassemia

Source

Identifiers

PMID: 2364173

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2364173-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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