COMBINED GENETIC DISORDERS IN PATIENTS WITH COAGULOPATHY
Abstract
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.
Key words: F8 gene, Hemophilia A, von Willebrand disease, hereditary pathologies, chromosomal disorders, cleft palate, color blindness.
Keywords:
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