The article presents the available literature data on combined pathologies with hereditary coagulopathy and includes our own statistical calculations and 4 clinical cases of a combination of Hemophilia A, von Willebrand disease with hard palate defects, the genetic locus of which is located in the immediate vicinity of the F8 gene. Mutations and changes in the protein structure of the F8 gene can lead to the development of both sporadic forms of hemophilia and occur in patients with a hereditary predisposition. Research methods: coagulological, examination and questionnaire data. Conclusion: it is necessary to widely introduce methods of molecular genetic research and prenatal diagnostics in Uzbekistan.
Maqolada irsiy koagulopatiya bilan birga keladigan kasalliklar bo'yicha adabiyotlarda mavjud bo'lgan ma'lumotlar keltirilgan va o'zimizning statistik hisob-kitoblarimiz va irsiy o'chog'i yaqin joylashgan gemofiliya A, fon Villebrand kasalligining qattiq tanglay nuqsonlari bilan kombinatsiyasining 4 ta klinik holati keltirilgan. F8 geni. F8 genining oqsil tuzilishidagi mutatsiyalar va o'zgarishlar gemofiliyaning har ikkala sporadik shakllarining rivojlanishiga olib kelishi mumkin va irsiy moyilligi bo'lgan bemorlarda sodir bo'ladi. Tadqiqot usullari: koagulologik, tekshirish va so'rov ma'lumotlari. Xulosa: O‘zbekistonda molekulyar genetik tadqiqotlar va prenatal diagnostika usullarini keng joriy etish zarur.
В статье представлены имеющиеся в литературе данные о сочетанной патологии с наследственной коагулопатией и включены собственные статистические расчеты и 4 клинических случая сочетания гемофилии А, болезни фон Виллебранда с дефектами твердого неба, генетический локус которых расположен в непосредственной близости от ген F8. Мутации и изменения в структуре белка гена F8 могут приводить к развитию как спорадических форм гемофилии, так и встречаться у больных с наследственной предрасположенностью. Методы исследования: коагулологический, данные осмотра и опроса. Вывод: необходимо широко внедрять в Узбекистане методы молекулярно-генетического исследования и пренатальной диагностики.
The article presents the available literature data on combined pathologies with hereditary coagulopathy and includes our own statistical calculations and 4 clinical cases of a combination of Hemophilia A, von Willebrand disease with hard palate defects, the genetic locus of which is located in the immediate vicinity of the F8 gene. Mutations and changes in the protein structure of the F8 gene can lead to the development of both sporadic forms of hemophilia and occur in patients with a hereditary predisposition. Research methods: coagulological, examination and questionnaire data. Conclusion: it is necessary to widely introduce methods of molecular genetic research and prenatal diagnostics in Uzbekistan.
| № | Muallifning F.I.Sh. | Lavozimi | Tashkilot nomi |
|---|---|---|---|
| 1 | Berger I.V. | Doctor of Philosophy (PhD) of Medical Sciences | Deputy Chief Physician at the Republican Scientific and Practical Medical Center for Hematology (RNPMCH) of the Ministry of Health of the Republic of Uzbekistan |
| 2 | Makhmudova A.D. | Doctor of Medical Sciences | Deputy Director for the Scientific Department of the RNPMCH of Hematology |
| 3 | Madasheva A.G. | Doctoral student | Republican Scientific and Practical Medical Center for Hematology (RNPMCH) of the Ministry of Health of the Republic of Uzbekistan |
| 4 | Ulugova S.T. | Doctor of the higher category | Republican Scientific and Practical Medical Center for Hematology (RNPMCH) of the Ministry of Health of the Republic of Uzbekistan |
| № | Havola nomi |
|---|---|
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