%0 Journal Article
%T Clinical, hematologic and molecular variability of sickle cell-¦Â thalassemia in western India
%A Mukherjee Malay
%A Nadkarni Anita
%A Gorakshakar Ajit
%A Ghosh Kanjaksha
%J Indian Journal of Human Genetics
%D 2010
%I Medknow Publications
%X Background: Sickle cell-¦Â thalassemia (HbS-¦Â thalassemia) is a sickling disorder of varying severity, which results from compound heterozygosity for sickle cell trait and ¦Â thalassemia trait. The present study was undertaken to determine the genetic factors responsible for the clinical variability of HbS-¦Â thalassemia patients from western India. Materials and Methods: Twenty-one HbS-¦Â thalassemia cases with variable clinical manifestations were investigated. The ¦Á and ¦Â globin gene clusters were studied by molecular analysis. Results: Thirteen patients showed milder clinical presentation as against eight patients who had severe clinical manifestations. Four ¦Â thalassemia mutations were identified: IVS 1-5 (G¡úC), codon 15 (G¡úA), codon 30 (G¡úC) and codon 8/9 (+G). ¦Á thalassemia and XmnI polymorphism in homozygous condition (+/+) were found to be common among the milder cases. The ¦ÂS chromosomes were linked to the typical Arab-Indian haplotype (#31). Framework (FW) linkage studies showed that four ¦Â thalassemia mutations were associated with different ¦Â globin gene frameworks. Linkage of codon 15 (G¡úA) mutation to FW2 is being observed for the first time. Conclusion: The phenotypic expression of HbS-¦Â thalassemia is not uniformly mild and ¦Á thalassemia and XmnI polymorphism in homozygous condition (+/+) are additional genetic factors modulating the severity of the disease in the Indian subcontinent.
%K HbS- ¦Â thalassemia
%K clinical
%K mutations
%K framework
%K India
%U http://www.ijhg.com/article.asp?issn=0971-6866;year=2010;volume=16;issue=3;spage=154;epage=158;aulast=Mukherjee