GEMOFILIYA:GENETIK ASOSLARI,KLINIK XUSUSIYATLARI,DIAGNOSTIKASI VA ZAMONAVIY DAVOLASH USULLARI
Keywords:
gemofiliya ,qon ivish omillari ,genetik mutatsiya klinik belgilari ,profilaktik va zamonaviy davolash ,xromosoma gen terapiyasi ,VIII omil,IX omil ,gemartroz,gen terapiyasi,koagulatsiya,rekombinant faktorlarAbstract
Ushbu maqola gemofiliya kaslligini genetik asoslari ,klinik xususiyatlari va davolash nuqtai nazaridan tahlil qiladi .Maqolada kasallikning A va B turlari ularning klinik ko’rinishlari ,diagnostikasi va asoratlari batafsil o’rganilgan .Shuningdek gemofiliya bilan og’rigan bemorlarni davolashda ishlatiladigan zamonaviy yondashuvlar ; profilaktik faktor preparatlari ,gen terapiyasi ko’rib chiqilgan .Gemofiliyaning kelib chiqish sabablari, X xromosoma bilan bog’liq irsiy mexanizmlari hamda VIII va IX qon ivish omillari yetishmovchiligi bilan bog’liq patofiziologik jaroyonlar yoritilgan .Maqolada gemofiliya A va B turlarining klinik kechishi mumkin bo’lgan asoratlari tahlil qilinadi .Shu qatorda ,zamonaviy diagnostika usullari ,jumladan, laboratoriya va genetik tekshiruvlarning ahamiyati ko’rsatib berilgan .Gemofilayani davolashda qo’llaniladigan profilaktika va simptomatik yondashuvlar, rekombinant faktorlar hamda gen terapiyasining istiqbollari ilmiy manbalar asosida baholangan. Maqola gemofiliya bilan og’rigan bemorlarning hayot sifatini yaxshilash ,asoratlarini kamaytirish va samarali davolash strategiyalarini ishlab chiqishda ilmiy-amaliy ahamiyatga ega
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