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Article

Silent carrier beta-thalassaemia due to a severe beta-globin mutation interacting with other genetic elements.

European journal of pediatrics - 1 Jul 1993

Rund D, Filon D, Oppenheim A, Abramov A

Abstract excerpt

Beta-thalassaemia is caused by the presence of two mutated beta-globin genes, one inherited from each parent. We describe two families in which the diagnosis of beta-thalassaemia intermedia was delayed because one of the parents, an obligatory heterozygote, had normal haematological parameters (silent carrier beta-thalassaemia). DNA analysis revealed that these silent carriers were heterozygous for a point...

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Identifiers

PMID: 8354316
DOI: 10.1007/BF01954083

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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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