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- Title
The Prevalence of Factor V Leiden (G1691A) and Methylenetetrahydrofolate Reductase C677T Mutations in Sickle Cell Disease in Western India.
- Authors
Kangne, Harshada K.; Jijina, Farah F.; Italia, Yazdi M.; Jain, Dipti L.; Nadkarni, Anita H.; Ghosh, Kanjaksha K.; Colah, Roshan B.
- Abstract
The prevalence of the Factor V Leiden (FVL; G1691A) mutation and the methylenetetrahydrofolate reductase (MTHFR; C677T) mutation was determined in 180 patients with sickle cell (SS) disease (126 sickle homozygous and 54 sickle β-thalassaemia—age 1-47 years) and in 130 healthy controls. The FVL mutation in the heterozygous state was present in only 3 patients with SS disease and was absent in the controls. Genotyping of MTHFR 677C > T revealed increased frequency of the C allele than the T allele in patients as well as in controls. This suggests that these genetic markers may not be major risk factors for a hypercoagulable state in Indian patients with SS disease.
- Publication
Clinical & Applied Thrombosis/Hemostasis, 2015, Vol 21, Issue 2, p186
- ISSN
1076-0296
- Publication type
Article
- DOI
10.1177/1076029613495308