Recessively inherited coagulation disorders
作者： Pier Mannuccio Mannucci , Stefano Duga , Flora Peyvandi
DOI: 10.1182/BLOOD-2004-02-0595
关键词:
摘要: Deficiencies of coagulation factors other than factor VIII and IX that cause bleeding disorders are inherited as autosomal recessive traits rare, with prevalences in the general population varying between 1 500 000 2 million for homozygous forms. As a consequence rarity these deficiencies, type severity symptoms, underlying molecular defects, actual management episodes not well established hemophilia A B. We investigated more 1000 patients recessively from Italy Iran, country high rate diseases due to custom consanguineous marriages. Based upon this experience, article reviews genetic basis, prevalent clinical manifestations, disorders. The steps actions necessary improve condition often neglected outlined.
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