Please use this identifier to cite or link to this item: http://repository.kln.ac.lk/handle/123456789/1565
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

Files in This Item:
There are no files associated with this item.


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.