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- Title
The molecular basis for the thalassaemias in Sri Lanka.
- Authors
Fisher, Christopher A.; Premawardhena, Anuja; de Silva, Shanthimala; Perera, Giathra; Rajapaksa, Shabna; Olivieri, Nancy A.; Old, John M.; Weatherall, David J.
- Abstract
Summary. The β-globin gene mutations and the α-globin genes of 620 patients with the phenotype of severe to moderate thalassaemia from seven centres in Sri Lanka were analysed. Twenty-four β-globin gene mutations were identified, three accounting for 84·5% of the 1240 alleles studied: IVSI-5 (G→C) 56·2%; IVSI-1 (G→A) 15·2%; and haemoglobin E (codon (CD)26 GAG→GAA) 13·1%. Three new mutations were found; a 13-bp deletion removing the last nucleotide in CD6 to CD10 inclusively, IVSI-129 (A→C) in the consensus splice site, and a frame shift, CD55 (–A). The allele frequency of α+ thalassaemia was 6·5% and 1·1% for -α3·7 and -α4·2 deletions respectively. Non-deletion α-thalassaemia was not observed. Triplicate or quadruplicate α-globin genes were unusually common. In 1·5% of cases it was impossible to identify β-thalassaemia alleles, but in Kurunegala detailed family studies led to an explanation for the severe thalassaemia phenotype in every case, including a previously unreported instance of homozygosity for a quadruplicated α-globin gene together with β-thalassaemia trait. These findings have implications for the control of thalassaemia in high-frequency populations with complex ethnic histories.
- Subjects
SRI Lanka; GLOBIN; THALASSEMIA; GENETIC mutation
- Publication
British Journal of Haematology, 2003, Vol 121, Issue 4, p662
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1046/j.1365-2141.2003.04346.x