The phenotypic range of hemophilia A carriers.
We have described the study of a small kindred with X-linked hemophilia A. It was ascertained through a clinically affected female, the daughter of a man with moderately severe hemophilia. The pedigree and the proband's phenotype suggest that she may be a heterozygote in whom most of the normal alleles at the VIII-1 locus are not active. She has two sisters, also obligatory carriers. The three sisters exhibit the three phenotypes possible for heterozygous females: clinically affected, clinically normal but phenotypically abnormal as determined by laboratory tests, and clinically and phenotypically normal.
D000328:Adult; D000941:Antigens; D005169:Factor VIII / Q000276:immunology / Q000378:metabolism; D005260:Female; D008040:Genetic Linkage; D006467:Hemophilia A / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D010375:Pedigree; D010641:Phenotype; D012730:Sex Chromosomes
D000941:Antigens; D005169:Factor VIII