The use of intron 22 mutation in detection of haemophilia a carrier in patient's siblings

Abstract EN

Hemophilia A is an X-linked recessively inherited bleeding disorder characterized by deficiency of procoagulant factor VIII (FVIII).

Genetic diagnosis is the most accurate method available for carrier detection in families at-risk.

Aim of the study: To detect intron 22 XbaI mutation in haemophilic patients and their families in order to formulate accurate molecular diagnosis of the carrier.

Methods: 88 subjects screened for intron 22 mutation using XbaI restriction enzyme with long distance PCR.

Results: Allele frequency of positive XbaI was 46%, 23%, 40% and 27% in patients, mothers, sisters and control respectively.

Expected heterozygosity was 0.35 in mothers of the patients compared with 0.39 in the female control group while 0.48 in sisters of the patients.

Observed heterozygosity was 46% in mothers compared with 54% in the control while 80% in sisters.

Conclusion: Linkage analysis with Long distance PCR of intron 22 XbaI marker is a good method for carrier detection of hemophilia A.