Hemophilia carrier

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

Carrier Testing in Hemophilia B With an Immunoassay That Distinguishes a Prevalent Factor

lmmunoassays with a monoclonal antibody (A-i ) detect a prevalent dimorphism in plasma coagulation factor IX. The antibody was shown to react with a dimorphic segment of the normal factor IX sequence as follows. First. A-i bound to isolated activation peptide (residues 146 through 180) prepared from activated factor IX from a normal plasma pool. Second, binding of recombinant factor lXs with A-...