Genetic analysis of haemophilia A in Bulgaria.
BACKGROUND
Haemophilias are the most common hereditary severe disorders of blood clotting. In families afflicted with heamophilia, genetic analysis provides opportunities to prevent recurrence of the disease. This study establishes a diagnostical strategy for carriership determination and prenatal diagnostics of haemophilia A in Bulgarian haemophilic population.


METHODS
A diagnostical strategy consisting of screening for most common mutations in the factor VIII gene and analysis of a panel of eight linked to the factor VIII gene locus polymorphisms was established.


RESULTS
Polymorphic analysis for carrier status determination of haemophilia A was successful in 30 families out of 32 (94%). Carrier status was determined in 25 of a total of 28 women at risk (89%). Fourteen prenatal diagnoses in women at high risk of having a haemophilia A - affected child were performed, resulting in 6 healthy boys and 5 girls.


CONCLUSIONS
The compound approach proves to be a highly informative and cost-effective strategy for prevention of recurrence of haemophilia A in Bulgaria. DNA analysis facilitates carriership determination and subsequent prenatal diagnosis in the majority of Bulgarian families affected by haemophilia A.
Petkova
Rumena
R
Laboratory of Molecular Pathology, University Hospital of Obstetrics and Gynaecology, 2 Zdrave Str., 1431 Sofia, Bulgaria.
Chakarov
Stoian
S
Department of Biochemistry, Faculty of Biology, University of Sofia, 8 Dragan Tzankov Str., 1164 Sofia, Bulgaria.
Kremensky
Ivo
I
Laboratory of Molecular Pathology, University Hospital of Obstetrics and Gynaecology, 2 Zdrave Str., 1431 Sofia, Bulgaria.