title: Prevalence of factor V Leiden G1691A, MTHFR C677T, and prothrombin G20210A among Asian Indian sickle cell patients.
abstract: The prevalence of factor V (FV) Leiden G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T mutations were investigated among 90 sickle trait, 61 sickle homozygous, 75 sickle beta thalassemia, and 15 HbSD Asian Indian sickle cell patients. In all, 297 healthy controls were evaluated to compare the polymorphism frequency. The prevalence of FV Leiden heterozygous G>A were significant in the group (P = .02), while PRT G20210A polymorphism was not seen among patients as well as controls. However, an increased frequency of the MTHFR 677 C>T genotype was seen among patients as well as controls, but this was not statistically significant (P = .13). This suggested a low impact of inherited hypercoagulability risk factors in the pathogenesis of sickle cell disease and/or its complications.
authors.affiliation: Department of Hematology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Sanjay Kumar
authors.initials: SK
authors.lastname: Pandey
authors.forename: Arvind
authors.initials: A
authors.lastname: Meena
authors.forename: Kamal
authors.initials: K
authors.lastname: Kishor
authors.forename: R M
authors.initials: RM
authors.lastname: Mishra
authors.forename: Sweta
authors.initials: S
authors.lastname: Pandey
authors.forename: Renu
authors.initials: R
authors.lastname: Saxena
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D000755:Anemia, Sickle Cell / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D044466:Asian People; D002648:Child; D002675:Child, Preschool; D005165:Factor V / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007194:India; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D020125:Mutation, Missense; D011110:Polymorphism, Genetic; D015995:Prevalence; D011516:Prothrombin / Q000235:genetics*; D019851:Thrombophilia / Q000453:epidemiology / Q000209:etiology / Q000235:genetics
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)