title: Genetic analysis of haemophilia A in Bulgaria.
abstract: 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.
authors.affiliation: Laboratory of Molecular Pathology, University Hospital of Obstetrics and Gynaecology, 2 Zdrave Str., 1431 Sofia, Bulgaria.
authors.forename: Rumena
authors.initials: R
authors.lastname: Petkova
authors.affiliation: Department of Biochemistry, Faculty of Biology, University of Sofia, 8 Dragan Tzankov Str., 1164 Sofia, Bulgaria.
authors.forename: Stoian
authors.initials: S
authors.lastname: Chakarov
authors.affiliation: Laboratory of Molecular Pathology, University Hospital of Obstetrics and Gynaecology, 2 Zdrave Str., 1431 Sofia, Bulgaria.
authors.forename: Ivo
authors.initials: I
authors.lastname: Kremensky