Hemophilia 'A' Carrier Testing--Acceptance and Reactions

This study will (a) describe the medical, genetic, and carrier knowledge and beliefs in a population of female relatives of individuals with severe type A hemophilia before and after the relatives accept or decline direct mutation carrier testing; (b) identify the percent of these women who accept the offer of free pre test counseling, testing, and follow up genetic counseling and note their choice of one of three formats for pre test counseling - individually, with a spouse/partner, or in a group; and (c) describe their one and six months reactions to knowledge of personal carrier status and pre test counseling format on selected personal health behaviors and psychosocial variables. The study will also describe nuclear and extended family communication patterns about hemophilia and carrier status. This longitudinally designed study will enroll 480 female relatives of individuals with severe hemophilia A who have been or are currently being followed at the UNC Comprehensive Hemophilia Diagnostic and Treatment Center who have a factor VIII gene mutation that can be detected by currently available methods. Study participants will be interviewed before the pre test counseling and will complete self administered questionnaires (a) immediately after the pre test counseling and (b) at one and twelve months after receiving their test results and accepting or declining follow up genetic counseling. The information to be collected in this study will help to close gaps in the research literature and will be useful in the development of more empirically informed clinical and public health policies on direct mutation carrier testing for hemophilia A in particular and for carrier testing for X-linked disorders in general.