Population and molecular-genetic aspects of Haemophilia A and Haemophilia B in Uzbekistan

The present study summarizes results of retrospective epidemiological and molecular-genetic investigations of Haemophilia A and Haemophilia B in Uzbekistan. In the period from 1991 to 2004, a combined total of 1304 cases of Haemophilia A and Haemophilia B were recorded in the republic. The morbidity index varied from 0.75 to 1.46 per 10000 newborn male infants. The mean birth rate of patients with Haemophilia A and Haemophilia B amounted to 1: 8735 (1.14 × 10^?4) of newborn male infants. Features of certain DNA-polymorphisms in the genes of blood coagulation factors VIII and IX in the Uzbek population were analyzed. The frequencies of alleles were studied and the information value of these genetic markers for ascertaining genetic carriage and prenatal diagnosis of Haemophilia A and Haemophilia B was determined. Results of DNA diagnosis of Haemophilia A and Haemophilia B are summarized.