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Article

Homozygous beta-thalassaemia resulting in the beta-thalassaemia carrier state phenotype.

British journal of haematology - 1 Nov 1994

Rosatelli M C, Pischedda A, Meloni A, Saba L, Pomo A, Travi M, Fattore S, Cao A

Abstract excerpt

This paper describes the phenotypic manifestations of a very mild beta-thalassaemia mutation detected in several members of two families of Italian descent. The molecular defect, defined by denaturing gradient gel electrophoresis analysis and direct sequencing, consists of a C-->G substitution at position 844 of IVSII of the beta-globin gene within the consensus sequence of the IVSII acceptor splice site....

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Identifiers

PMID: 7819068
DOI: 10.1111/j.1365-2141.1994.tb05074.x

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