Study explores why only some women seek evaluation regarding their hemophilia carrier status

Individuals with a family history of severe hemophilia demonstrated higher levels of knowledge for hemophilia inheritance and bleeding risks to carriers.

NHF 2017 (Chicago, IL August 24-26):Hemophilia A and hemophilia B are X-linked bleeding disorders that have been primarily seen as diseases affecting only males; however, there is increasing evidence to show psychological, medical, and reproductive advantages for women to know their carrier status. Some women can also have inactivation of their normal X chromosome leading to sufficiently low factor levels (<40%) to meet the diagnosis of hemophilia.There is limited knowledge regarding why only some women seek evaluation regarding their hemophilia carrier status; as such, this study explores factors that influence the decision to pursue evaluation among hemophilia carriers and potential carriers.

In the poster, Factors influencing uptake of evaluation among hemophilia carriers and potential carriers, presented at the Annual Meeting of the National Hemophilia Foundation (NHF), the authors report results of a cross-sectional study was conducted using a web-based quantitative survey. Women with a family history of hemophilia were recruited at the National Hemophilia Foundation Annual Meeting and via Hemo Friends Facebook and Hemophilia Foundation of Oregon Facebook pages. Associations between different factors that might lead to the establishment of care were explored.

Sixty-nine hemophilia carriers and potential carriers were included in this study. Individuals with a personal history of bleeding symptoms (27/41 or about 2/3) and individuals who required treatment for a bleeding event (18/22 or about 80%) had significantly higher rates of establishing care . Individuals with a family history of severe hemophilia demonstrated higher levels of knowledge about hemophilia inheritance (24/34 or about 70%) and bleeding risks to carriers (12/30 or 40%) ; they were also more likely to discuss hemophilia with family members (27/34 or about 80%).  The findings suggest that hemophilia carriers and potential carriers are more likely to establish care after experiencing bleeding symptoms. Hemophilia severity may impact how women who are carriers retain  knowledge and their motivation to discuss inheritance and hemophilia with relatives. The authors conclude that this has implications for healthcare providers in how they enhance and promote care for hemophilia carriers.