Proactive and systematic hemophilia carrier screening in females with hemophilia
Hemophilia recognized as a disorder characterized by excessive bleeding, has conventionally been considered exclusive to male individuals. However, emerging research highlights the potential manifestation of haemophilia in females who carry the affected X-chromosome, thereby transmitting the condition to their male offspring. It is noteworthy that a substantial number of affected women remain undiagnosed.
This research endeavour focuses on the proactive and systematic screening of all female family members associated with haemophilia patients to identify carriers of the disease. Retrospective data from previously screened individuals were compiled, and efforts were made to extend the screening to previously unscreened individuals. Within the cohort of 236 families afflicted by haemophilia, a total of 900 female individuals were identified, comprising 454 carriers and 118 non-carriers. The carrier status of 320 patients was unknown, and their coagulation factor levels had not been previously assessed.
Significantly lower coagulation factor levels were observed in carriers compared to non-carriers, and it was determined that those with affected deficiency typically exhibited moderate haemophilia, with severe cases being rare. In the context of women with undiagnosed haemophilia, heavy menstrual bleeding emerged as a potential indicator of the disease. Distinctions between HA and HB were noted in terms of bleeding patterns and hemostatic treatment requirements. No discernible differences were observed in mean age at diagnosis or mean coagulation factor levels.
This study contributes a comprehensive inventory of the patient and carrier populations within the haemophilia cohort, albeit acknowledging that not all females have undergone screening. Challenges such as loss of contact with family members, study fatigue, or inadequate awareness about the significance of carrier status may impede comprehensive screening efforts. Consequently, this study underscores the necessity for ongoing haemophilia carrier screening as an integral component of every comprehensive haemophilia clinic, regardless of gender.
In conclusion, it is imperative to ensure that individuals, irrespective of gender, who are potentially affected by haemophilia, have access to timely diagnosis and appropriate care. This necessitates a sustained commitment to haemophilia carrier screening within the clinical setting to enhance our understanding of the disease and facilitate optimal management strategies.
Reference:
Krumb E,ASH2023. #288
With the educational support of:
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