Carrier Detection in Hemophilia A : A Cooperative International Study
نویسندگان
چکیده
Eight laboratories in six countries cooperated to clarify several issues concerning the phenotypes of heterozygous carriers of hemophilia “A.” Plasma levels of factor VIII (F.VIlI:C. formerly VIII:C) and von Willebrand factor (VWF:Ag. formerly VIIIR:Ag) of carriers and normal women were determined by various “in-house” methods; a single lyophilized plasma standard was used for all assays. Analysis of the collated data from 336 carriers (296 obligatory carriers and 40 sporadic carriers) and 1 37 normal women showed that there was no difference in the F.Vlll:C levels of “paternal” carriers (women who had obtained the abnormal gene from their fathers) and “maternal” carriers. Neither was there a difference in the VWF:Ag levels of
منابع مشابه
The Frequencies of three Factor IX-Linked Restriction Fragment Length Polymorphisms in Iranian Patients with Hemophilia B
Background: Hemophilia B is an X-linked recessive coagulation disorder caused by factor IX deficiency. Analysis of factor IX gene polymorphisms is considered the best approach for prenatal diagnosis and carrier detection of hemophilia B where the identification of gene mutation is not easily possible. Objective: To study the frequency of three factor IX-linked restriction fragment length polym...
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Factor VIII (F.VIII) and von Willebrand factor (VWF):Ag data collected by eight laboratories on a total of 336 obligatory carriers of hemophilia A and 137 normal women were used to answer several questions concerning the construction of linear discriminants for carrier detection. It was found: that a "universal" linear discriminant can be constructed which is suitable for use in all laboratorie...
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متن کاملCarrier detection in hemophilia A: a cooperative international study. I. The carrier phenotype.
Eight laboratories in six countries cooperated to clarify several issues concerning the phenotypes of heterozygous carriers of hemophilia "A." Plasma levels of factor VIII (F.VIII:C, formerly VIII:C) and von Willebrand factor (VWF:Ag, formerly VIIIR:Ag) of carriers and normal women were determined by various "in-house" methods; a single lyophilized plasma standard was used for all assays. Analy...
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