Scientific Journal of

  Abstract

 Background and Objectives

 Hemophilia A is the most common X-linked blood coagulation disorder. The prevalence rate of this disease in various communities is about 1-2/10000 males. The prevalence of hemophilia A is very high in southern Khorasan population, perhaps due to their isolation and high rate of consanguinity. The aim of this research was to detect hemophilia A carriers in two villages of southern Khorasan and set a prenatal diagnosis program for these families.

 Materials and Methods

 Blood samples of 34 patients with hemophilia A out of 51 family members (9 families) from two villages were collected. We were also able to collect samples from 7 mothers out of 9 families. Intragenic polymorphic sites in factor VIII gene including HindIII, Bc1I and AlwNI were used for carrier detection. DNA extraction and PCR-RELP were also performed.

 Results

 The results revealed 3 heterozygote mothers for HindIII, 2 for Bc1I and 1 for AlwNI. We utilized these polymorphic sites for carrier analysis in these families. Ultimately, 4 carrier sisters of affected boys in this population were found it was then possible to perform prenatal diagnosis procedure for their families.

 Conclusions

 HindIII and Bc1I polymorphisms can be suitable markers for hemophilia prenatal diagnosis in these two villages.

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 Key words : Hemophilia A, RFLP (Restriction Fragment Length Polymorphism), Carrier detection�