The Prevalence of Factor V Leiden (G1691A) and Methylenetetrahydrofolate Reductase C677T Mutations in Sickle Cell Disease in Western India
| Autor: | Kanjaksha Ghosh, Harshada K. Kangne, Dipti L. Jain, Roshan B. Colah, Yazdi M. Italia, Anita Nadkarni, Farah Jijina |
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| Rok vydání: | 2013 |
| Předmět: |
Adult
Male Adolescent Cell Mutation Missense India Disease Anemia Sickle Cell Risk Factors medicine Factor V Leiden Prevalence Humans Child Alleles Methylenetetrahydrofolate Reductase (NADPH2) Genetics biology business.industry Factor V Infant Hematology General Medicine Middle Aged medicine.disease medicine.anatomical_structure Methylenetetrahydrofolate reductase Child Preschool Mutation (genetic algorithm) biology.protein Female business |
| Zdroj: | Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis. 21(2) |
| ISSN: | 1938-2723 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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