Carrier Detection for Hemophilia A carriers in Indian Population

Hemophilia A is an X-linked recessive bleeding disorder caused by mutations in FVIII gene. Genetic analysis in Haemophilia A families is widely carried out by linkage analysis by allelotyping using RFLP. These RFLP markers segregate co-dominantly following Mendelian inheritance pattern and can be amplified by PCR using flanking primers. To carryout linkage efficiently, the informativity of individual polymorphic markers should be established for devising a strategy to cover a large number of Haemophilia A affected families for molecular diagnosis and counseling. In present study RFLP marker Bcl 1 was used for identifying the carrier.The objective of present study was to assess the usefulness and application of Bcl 1 polymorphic marker in FVIII gene for genetic counseling in North Indian population. Therty four hemophilic families were examined for carrier detection. The clinical diagnosis was based on detailed family history, physical examination, bleeding time, blood clotting time, activated partial thromboplastin time (APTT) and assay of FVIII level in blood. The clinically confirmed cases of haemophilia were selected for molecular analysis.