The Prevalence of Factor V Leiden (G1691A) and Methylenetetrahydrofolate Reductase C677T Mutations in Sickle Cell Disease in Western India

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.

[1]  P. Kumari,et al.  Lower incidence of nonsyndromic cleft lip with or without cleft palate in females: Is homocysteine a factor? , 2013, Journal of Biosciences.

[2]  M. Bezerra,et al.  MTHFR polymorphic variant C677T is associated to vascular complications in sickle-cell disease. , 2012, Genetic testing and molecular biomarkers.

[3]  R. Saxena,et al.  Prevalence of Factor V Leiden G1691A, MTHFR C677T, and Prothrombin G20210A Among Asian Indian Sickle Cell Patients , 2012, Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis.

[4]  P. Moura,et al.  Genetic polymorphisms and cerebrovascular disease in children with sickle cell anemia from Rio de Janeiro, Brazil. , 2011, Arquivos de neuro-psiquiatria.

[5]  Z. Rahimi,et al.  Sickle Cell Disease and Venous Thromboembolism , 2011, Mediterranean journal of hematology and infectious diseases.

[6]  N. Yusoff,et al.  Factor V Leiden and Prothrombin G20210A Mutations Among Healthy Indians in Malaysia , 2010 .

[7]  M. Steinberg.  Genetic Etiologies for Phenotypic Diversity in Sickle Cell Anemia , 2009, TheScientificWorldJournal.

[8]  M. Steinberg.  Sickle Cell Anemia, the First Molecular Disease: Overview of Molecular Etiology, Pathophysiology, and Therapeutic Approaches , 2008, TheScientificWorldJournal.

[9]  Z. Rahimi,et al.  Thrombophilic mutations among Southern Iranian patients with sickle cell disease: high prevalence of factor V Leiden , 2008, Journal of Thrombosis and Thrombolysis.

[10]  A. Gorakshakar,et al.  HPLC studies in hemoglobinopathies , 2007, Indian journal of pediatrics.

[11]  K. Ghosh,et al.  Deep venous thrombosis in the antenatal period in a large cohort of pregnancies from western India , 2007, Thrombosis journal.

[12]  A. Kutlar.  Sickle Cell Disease: A Multigenic Perspective of a Single Gene Disorder , 2007, Medical principles and practice : international journal of the Kuwait University, Health Science Centre.

[13]  R. J. Manners,et al.  Prevalence of the Factor V G1691A and the Factor II/prothrombin G20210A gene polymorphisms among Tamilians. , 2005, Experimental and molecular pathology.

[14]  A. Kutlar.  Sickle Cell Disease: A Multigenic Perspective of a Single-Gene Disorder , 2005, Medical Principles and Practice.

[15]  D. Mohanty,et al.  Combination of thrombophilia markers in acute myocardial infarction of the young. , 2004, Indian journal of medical sciences.

[16]  W. Almawi,et al.  Factor V‐Leiden, prothrombin G20210A, and MTHFR C677T mutations among patients with sickle cell disease in Eastern Saudi Arabia , 2004, American journal of hematology.

[17]  G. Dover,et al.  Sickle cell disease: no longer a single gene disorder. , 2001, Current opinion in pediatrics.

[18]  A. Kutlar,et al.  THE METHYLENE TETRAHYDROFOLATE REDUCTASE (C677T) MUTATION AS A POTENTIAL RISK FACTOR FOR AVASCULAR NECROSIS IN SICKLE CELL DISEASE , 2001, Hemoglobin.

[19]  D. Mohanty,et al.  High Frequency of Factor V Leiden Mutation in Parsis – a Highly Endogamous Population in India , 2000, Thrombosis and Haemostasis.

[20]  Hay,et al.  The methylenetetrahydrofolate reductase gene C677T polymorphism in patients with homozygous sickle cell disease and stroke , 1999, British journal of haematology.

[21]  V. Arruda,et al.  Prothrombin mutant, factor V Leiden, and thermolabile variant of methylenetetrahidrofolate reductase among patients with sickle cell disease in Brazil , 1998 .

[22]  F. Costa,et al.  Prothrombin mutant, factor V Leiden, and thermolabile variant of methylenetetrahydrofolate reductase among patients with sickle cell disease in Brazil. , 1998, American journal of hematology.

[23]  L. Drouet,et al.  Multiplex PCR-mediated Site-directed Mutagenesis for One-step Determination of Factor V Leiden and G20210A Transition of the Prothrombin Gene , 1997, Thrombosis and Haemostasis.

[24]  G. Garewal,et al.  Factor V Leiden: prevalence in the indigenous population and cases of thrombosis in North India. , 1997, British journal of haematology.

[25]  R. Nagel,et al.  Effect of alpha-thalassemia on sickle-cell anemia linked to the Arab-Indian haplotype in India. , 1997, American journal of hematology.

[26]  P. Reitsma,et al.  Factor V Leiden (FVQ 506) is common in a Brazilian population , 1995, American journal of hematology.