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Title: | The Molecular basis for the thalassaemias in Sri Lanka |
Authors: | Fisher, C.A. Premawardhena, A.P. de Silva, S. Perera, G. Rajapaksa, S. Olivieri, N.A. Old, J.M. Weatherall, D.J. Sri Lanka Thalassaemia Study Group |
Keywords: | Thalassemia alpha-Thalassemia-epidemiology beta-Thalassemia-epidemiology alpha-Thalassemia-genetics beta-Thalassemia-genetics Sri Lanka-epidemiology Mutation-genetics Globins-genetics |
Issue Date: | 2003 |
Publisher: | Wiley-Blackwell |
Citation: | British Journal of Haematology. 2003; 121(4): 662-71 |
Abstract: | The beta-globin gene mutations and the alpha-globin genes of 620 patients with the phenotype of severe to moderate thalassaemia from seven centres in Sri Lanka were analysed. Twenty-four beta-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 alpha+ thalassaemia was 6.5% and 1.1% for -alpha3.7 and -alpha4.2 deletions respectively. Non-deletion alpha-thalassaemia was not observed. Triplicate or quadruplicate alpha-globin genes were unusually common. In 1.5% of cases it was impossible to identify beta-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 alpha-globin gene together with beta-thalassaemia trait. These findings have implications for the control of thalassaemia in high-frequency populations with complex ethnic histories. |
Description: | Indexed in MEDLINE |
URI: | http://repository.kln.ac.lk/handle/123456789/1565 |
ISSN: | 0007-1048 (Print) 1365-2141 (Electronic) |
Appears in Collections: | Journal/Magazine Articles |
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