Detection of Haemophilia a Carriers in North Indian Population

Haemophilia A is a X linked genetic disorder characterized by the deficiency or absence of the Factor VIII protein in blood plasma that is responsible for clotting. Usually the affected son has inherited the mutant gene from his carrier mother but about 30% of cases arise from a spontaneous mutation, and there is no family history of haemophilia A. Carrier detection and pre-natal diagnosis are important aspects of care in haemophilia A and are based on intragenic or extragenic polymorphism in FVIII gene or by detection of causative mutation in potential carriers or in unborn male at risk. The most common type of mutation in severe haemophilia A is an inversion in 22-intron of FVIII gene, which accounts for 45% cases. The molecular characterization of mutations in haemophilia A is carried out by using PCR-RFLP. In India the burden of haemophilia A is heavy because of poor social support and expensive therapeutic measures. In these circumstances, carrier detection and prenatal diagnosis in affected families can significantly help in reducing the incidence. In the present study intragenic polymorphic marker HindIII was used for carrier detection in Indian population.