Co-inheritance of Factor V Leiden in Cases with Inherited Hemophilia A in North India

  • Namrata P Awasthi Associate Professor Dept. of Pathology Dr. Ram Manohar Lohia Institute of Medical Sciences, Lucknow UP, INDIA
  • Praveen Kumar
  • Shivbrat Upadhyaya
  • Nuzhat Husain
Keywords: Hemophilia A, Factor V Leiden, Co-inheritance, Prevalence, North India


Background: Considerable variation has been noted in the age at onset and bleeding pattern in Cases with Hemophilia A (CWH) of severe type. Mechanisms seem multifactorial with co-inheritance of Factor V Leiden mutation (FVL) with severe Hemophilia A (HA) being one of them. There is evidence that carrier ship of FVL mutation in CWH might confer an evolutionary selective advantage leading to a milder clinical phenotype. The authors hypothesized that FVL mutation may be more prevalent in CWH. The present study was undertaken to determine the prevalence of FVL mutation in CWH and evaluate the phenotypic effect of this co-inheritance on clinical severity of hemophilia.Methods: A total of 100 CWH were recruited for this study. Detailed clinical history regarding the age at onset, type, frequency and site of bleeding was taken. Coagulation work up including Factor VIII (FVIII) assay and von willebrand factor antigen (VWFAg) were done. FVL mutation and intron 22 inversion mutation were studied.Result: Fifty six CWH had FVIII <1% categorizing them into severe category. FVL mutation was present in 3 cases. All the three cases had FVIII levels <1% with Intron 22 inversion, were heterozygous for FVL and were clinically severe. Out of these three patients, two were siblings and the third sibling who is also a severe hemophilia patient, did not carry FVL mutation.Conclusion: The results suggest that prevalence of FVL mutation in CWH is similar to that in non-hemophilic population and this mutation has no definite influence on the clinical severity in CWH.   


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