Profil clinique et biologique des conductrices de l'hémophilie A et B

Abstract

Hemophilia is a rare inherited bleeding disorder linked to the X chromosome, primarily affecting males but also involving female carriers, who are often underdiagnosed and overlooked in follow-up and screening protocols. Our study focused on this particular population by combining a thorough theoretical review of the biological, genetic, and clinical foundations related to carrier status with a practical investigation involving 31 women identified through the follow-up of their hemophilic children at the University Hospital of Sétif. The study allowed for the detailed description of the clinical and biological profile of these women, revealing frequent hemorrhagic symptoms (such as menorrhagia, postoperative bleeding, and obstetrical complications), as well as significant biological abnormalities including iron-deficiency anemia and coagulation disorders. Most of the carriers were diagnosed late, typically after giving birth to a hemophilic child, reflecting a near-total absence of systematic screening. The findings underscore the need for better recognition of carrier status, early screening, and a multidisciplinary approach to care. Practical recommendations were proposed, including the creation of a national registry, the integration of genetic counseling, and the reinforcement of awareness among healthcare professionals and the general public. This regionally pioneering study paves the way for broader multicenter research aimed at refining the medical, biological, and psychosocial understanding of female carriers of hemophilia in Algeria