Introduction The worldwide prevalence of Huntington's disease (HD) varies from 0.37 to 12.1 cases per 100 000 persons in different populations.
Objective Our goal was to analyse prevalence of HD among citizens of Bashkortostan Republic of various ethnic origins and area of residence. The population of Bashkortostan is 4.06 million people. The population of Bashkirs is 1.2 million (29.5%) according to the 2010 census. Two other big ethnic groups are Russians (36.0%) and Tatars (25.4%).
Materials and Methods According to National Genetic Register “Huntington's disease” by 1 January 2012 there are 152 HD patients, 28 obligate carriers and 151 possible carriers from 145 families. We have also registered 75 cases of deaths of HD. The prevalence of HD in Bashkortostan is 3.7 per 100 000 that is significantly higher than in our previous study (2.57 per 100 000 people). This is caused by improvements in diagnosis and registration of HD. The highest prevalence rate was among Tatars and Russians (6.42 and 5.39 per 100 000 respectively). The prevalence of HD in Bashkirs was only 1.56 per 100 000 people. This disease was registered in 27 of 54 administrative districts and in 15 of 21 cities of Bashkortostan. The prevalence of HD varies from 2.3 to 19.76 per 100 000 people.
Conclusion A growth of HD prevalence rate and its geographical expansion in Bashkortostan Republic emphasise the importance of analysing epidemiological information of HD patients and carriers using National Genetic Register. DNA-diagnostics and improving physician awareness will help to early diagnosis and effective genetic counselling of HD.
- Huntington's disease
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