Format

Send to

Choose Destination
See comment in PubMed Commons below
Clin Appl Thromb Hemost. 2015 Mar;21(2):186-9. doi: 10.1177/1076029613495308. Epub 2013 Jul 17.

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

Author information

1
Department of Haematogenetics, National Institute of Immunohaematology (ICMR), KEM Hospital Campus, Parel, Mumbai, India.
2
Haematology Department, KEM Hospital, Parel, Mumbai, India.
3
Valsad Raktadan Kendra, Valsad, India.
4
Department of Pediatrics, Government Medical College, Nagpur, India.
5
Department of Haematogenetics, National Institute of Immunohaematology (ICMR), KEM Hospital Campus, Parel, Mumbai, India colahrb@gmail.com.

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.

KEYWORDS:

Factor V Leiden; methylenetetrahydrofolate reductase; polymorphisms; sickle cell disease

PMID:
23869056
DOI:
10.1177/1076029613495308
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Atypon
    Loading ...
    Support Center