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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...

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Beta-thalassemia intermedia with exceptionally high hemoglobin A2: relationship to mutations in the beta-gene promoter.PMID 1380206Read ↗

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Beta-thalassemia intermedia due to compound heterozygosity for two beta-globin gene promoter mutations, including a novel TATA box deletion.Semantic proximity Read ↗

Beta-thalassemia intermedia due to two novel mutations in the promoter region of the beta-globin gene.Semantic proximity Read ↗

Molecular, haematological and clinical studies of the -101 C --> T substitution of the beta-globin gene promoter in 25 beta-thalassaemia intermedia patients and 45 heterozygotes.Semantic proximity Read ↗

Case report: effects of iron deficiency and the -88 C-->T mutation on HbA2 levels in beta-thalassemia.Semantic proximity Read ↗

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