title: The Prevalence of Factor V Leiden (G1691A) and Methylenetetrahydrofolate Reductase C677T Mutations in Sickle Cell Disease in Western India.
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.
authors.affiliation: Department of Haematogenetics, National Institute of Immunohaematology (ICMR), KEM Hospital Campus, Parel, Mumbai, India.
authors.forename: Harshada K
authors.initials: HK
authors.lastname: Kangne
authors.affiliation: Haematology Department, KEM Hospital, Parel, Mumbai, India.
authors.forename: Farah F
authors.initials: FF
authors.lastname: Jijina
authors.affiliation: Valsad Raktadan Kendra, Valsad, India.
authors.forename: Yazdi M
authors.initials: YM
authors.lastname: Italia
authors.affiliation: Department of Pediatrics, Government Medical College, Nagpur, India.
authors.forename: Dipti L
authors.initials: DL
authors.lastname: Jain
authors.affiliation: Department of Haematogenetics, National Institute of Immunohaematology (ICMR), KEM Hospital Campus, Parel, Mumbai, India.
authors.forename: Anita H
authors.initials: AH
authors.lastname: Nadkarni
authors.affiliation: Department of Haematogenetics, National Institute of Immunohaematology (ICMR), KEM Hospital Campus, Parel, Mumbai, India.
authors.forename: Kanjaksha K
authors.initials: KK
authors.lastname: Ghosh
authors.affiliation: Department of Haematogenetics, National Institute of Immunohaematology (ICMR), KEM Hospital Campus, Parel, Mumbai, India colahrb@gmail.com.
authors.forename: Roshan B
authors.initials: RB
authors.lastname: Colah
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D000755:Anemia, Sickle Cell / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D015995:Prevalence; D012307:Risk Factors
chemical_list: C095381:factor V Leiden; D005165:Factor V; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: Factor V Leiden; methylenetetrahydrofolate reductase; polymorphisms; sickle cell disease