Beta-thalassemia intermedia with exceptionally high hemoglobin A2: relationship to mutations in the beta-gene promoter.

doi:10.1097/00000441-199208000-00001

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Article

Beta-thalassemia intermedia with exceptionally high hemoglobin A2: relationship to mutations in the beta-gene promoter.

The American journal of the medical sciences - 1 Aug 1992

Coleman M B, Adams J G, Plonczynski M W, Harrell A H, Walker A M, Fairbanks V, Steinberg M H

Abstract excerpt

Small deletions of the 5' portion of the beta-globin gene that remove the promoters but stop 3' to the delta-globin gene are recognized as the sole cause of beta-thalassemia with exceptionally high hemoglobin A2 (HbA2) levels. Two patients with beta-thalassemia intermedia and exceptionally high levels of HbA2 (10.4 and 12.0%) were examined. One patient was a combined heterozygote for the -88 C----T and a novel...

Topics

Adolescent
Base Sequence
Chromosome Deletion
Crossing Over, Genetic
Female
Fetal Hemoglobin
Genetic Carrier Screening
Globins
Haplotypes
Hemoglobin A2
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Molecular Sequence Data

Mutation

Oligodeoxyribonucleotides

Polymerase Chain Reaction

Promoter Regions, Genetic

Source

Open in PubMed

Identifiers

PMID: 1380206
DOI: 10.1097/00000441-199208000-00001

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1380206-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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