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. 1976 Sep;28(5):482–488.

The phenotypic range of hemophilia A carriers.

J B Graham, C H Miller, H M Reisner, R C Elston, J A Olive
PMCID: PMC1685100  PMID: 984044

Abstract

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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