Carrier detection in hemophilia A: a cooperative international study. I. The carrier phenotype

Carrier 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...

Carrier Detection in Hemophilia A : A Cooperative International Study

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. Analy...

Carrier detection in hemophilia A: a cooperative international study. II. The efficacy of a universal discriminant.

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...

Hemophilia A: carrier detection and prenatal diagnosis by DNA analysis.

In this study, we used DNA polymorphisms for carrier detection and prenatal diagnosis of hemophilia A in a large group of Italian families. The restriction fragment length polymorphisms (RFLPs) investigated were the intragenic polymorphic Bc/I site within the factor VIII gene; the extragenic multiallelic Taq I system at the St14 locus; and the extragenic Bg/II site at the DX13 locus. The factor...

Carrier Determination in a Hemophilia B Family Using Single Strand Conformation Polymorphism (SSCP) and Sequencing