This work summarizes the results of conducted retrospective epidemiologic and molecular genetic investigations of Hemophilia A and B in Uzbekistan. Totally 1304 Hemophilia A and B cases were registered in the republic during the period from 1991 to 2004. Morbidity rate varied from 0.75 up to 1.46 per 10 000 new born boys. An average birth rate of patients with Hemophilia A and B for 10 years period (1991–2000) was 1 : 8735 (1.14·10–4) of born boys. Some peculiarities of DNA polymorphism in genes of blood coagulation factors VIII and IX in Uzbek population have been analyzed. Frequency of alleles was studied and self-descriptiveness of these gene markers for revelation of heterozygous carrier and prenatal diagnostics of hemophilia A and B have been determined. Finally DNA-diagnostics of Hemophilia A and B were summed up.
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