| ORIGINAL ARTICLE |
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| Year : 2010 | Volume
: 16
| Issue : 3 | Page : 154-158 |
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Clinical, hematologic and molecular variability of sickle cell-β thalassemia in western India
Malay B Mukherjee, Anita H Nadkarni, Ajit C Gorakshakar, Kanjaksha Ghosh, Dipika Mohanty, Roshan B Colah
Department of Hemato-Genetics, National Institute of Immunohaematology (ICMR), Mumbai, India
Correspondence Address:
Roshan B Colah
National Institute of Immunohaematology (ICMR), 13th Floor, New Multistoreyed Building, King Edward Memorial Hospital Campus, Parel, Mumbai 400 012
India
DOI: 10.4103/0971-6866.73410 PMID: 21206704
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Background: Sickle cell-β thalassemia (HbS-β thalassemia) is a sickling disorder of varying severity, which results from compound heterozygosity for sickle cell trait and β thalassemia trait. The present study was undertaken to determine the genetic factors responsible for the clinical variability of HbS-β thalassemia patients from western India.
Materials and Methods: Twenty-one HbS-β thalassemia cases with variable clinical manifestations were investigated. The α and β 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 β thalassemia mutations were identified: IVS 1-5 (G→C), codon 15 (G→A), codon 30 (G→C) and codon 8/9 (+G). α thalassemia and XmnI polymorphism in homozygous condition (+/+) were found to be common among the milder cases. The βS chromosomes were linked to the typical Arab-Indian haplotype (#31). Framework (FW) linkage studies showed that four β thalassemia mutations were associated with different β globin gene frameworks. Linkage of codon 15 (G→A) mutation to FW2 is being observed for the first time.
Conclusion: The phenotypic expression of HbS-β thalassemia is not uniformly mild and α thalassemia and XmnI polymorphism in homozygous condition (+/+) are additional genetic factors modulating the severity of the disease in the Indian subcontinent. |
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