Combined factor V and factor VIII deficiency: a report of a case, genetic analysis, and response to desmopressin acetate.
نویسندگان
چکیده
Combined factor V and factor VIII deficiency (F5F8D) is a rare, autosomal recessive congenital bleeding disorder with a prevalence of 1:1,000,000. Individuals present with a variable clinical bleeding phenotype, elevated prothrombin time (PT) and partial thromboplastin time (PTT), and plasma levels of factor V and VIII of 5–30%. Mutations in 2 proteins, LMAN1 and MCFD, required for concurrent transport of FV and FVIII through the Golgi apparatus and endoplasmic reticulum, have been identified in these patients.
منابع مشابه
Combined Factor V and VIII Deficiency
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عنوان ژورنال:
- Clinical advances in hematology & oncology : H&O
دوره 10 7 شماره
صفحات -
تاریخ انتشار 2012