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Article

A novel molecular basis for beta thalassemia intermedia poses new questions about its pathophysiology.

Blood - 1 Nov 2005

Premawardhena Anuja, Fisher Christopher A, Olivieri Nancy F, de Silva Shanthimala, Sloane-Stanley Jackie, Wood William G, Weatherall David J

Abstract excerpt

During a study of the molecular basis for severe forms of beta thalassemia in Sri Lanka, 2 patients were found to be heterozygous for beta thalassemia mutations. Further analysis revealed that one of them has a previously unreported molecular basis for severe thalassemia intermedia, homozygosity for quadruplicated alpha globin genes in combination with heterozygous beta thalassemia. The other is homozygous for a...

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Identifiers

PMID: 15947092
DOI: 10.1182/blood-2005-02-0593

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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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