Families and Carrier Testing for Hemophilia A

The purpose of this project is to enhance understanding of how individuals respond to carrier detection in genetic diseases that have an X-linked mode of inheritance. The project will study how individuals with hemophilia A and their female relatives who are at risk for being carriers: learn about the heritability of this disorder and the availability of carrier detection; understand their choices about whether to have or to forgo carrier detection; and interpret their decisions about testing. The hypothesis of this study is that these processes and hence the effects on individuals are strongly influenced by family relationships that themselves may be affected by the pattern in which hemophilia A is inherited as well as the very high incidence of HIV infection among males who were treated before 1985. From this study we plan to gain insight into individuals' attitudes toward genetic testing. Such knowledge would be useful in counseling individuals more fully about the implications that genetic testing may have for them as well as to inform the broader debate about how genetic testing should be implemented in the future.