Hemophilia is an inherited blood disorder traditionally thought to affect men only. However, it is now known that women may also suffer from the disease and even experience severe symptoms. Despite the current knowledge, women with hemophilia still encounter gender bias in medical diagnosis and treatment.
“Females with hemophilia may go undiagnosed for years because the most common symptoms – menorrhagia and bleeding after childbirth – also occur in females without hemophilia,” Bryant et al explained in a case report published in Acta Haematologica.
Accordingly, the number of women and girls with hemophilia included in national and international databases is limited. For instance, in the most recent World Federation of Hemophilia annual report, only 3.5% of 206,119 hemophilia patients were female.
Women with inherited bleeding disorders may experience intense bleeding with a significant impact in their quality of life. Although hemophilia carriers rarely present with severe or moderate factor VIII (FVIII) or IX (FIX) deficiencies, mild deficiency is more common than initially thought.
“The confusion between the genetic diagnosis of the carriership, mainly assessed at adult age and the diagnosis of the bleeding disorder for those who have low factor levels often prevents early diagnosis of a potential bleeding risk,” d’Oiron et al wrote in Haemophilia.
New Nomenclature for Hemophilia Carriers Defined
This late diagnosis tendency could be reverted by screening factor levels and bleeding scores in potential or obligate hemophilia carriers during childhood, rather than at the time of pregnancy, when it is usually first observed in many countries. This would be particularly important for those with mild FVIII or FIX deficiency to allow adequate anticipation of menarche.
Early identification of females with low factor levels or bleeding symptoms is essential to implement adequate treatment and to provide proper management of bleeding episodes.
Bryant et al indicated, “Prophylactic factor replacement therapy is recommended in females with hemophilia, particularly those with joint disease or gynecologic complications.” In addition, they suggested that these women should receive infusion training and education on treatment options, the importance of treatment adherence, and physical activity. They should also be advised of the symptoms that require medical intervention.
Besides discrepancies in diagnosis and access to therapy, female patients are also largely underrepresented in hemophilia-related clinical trials.
Women’s Views on Female Hemophilia Awareness
In a recent study, Arya et al interviewed 15 female patients diagnosed with an inherited bleeding disorder in Canada. The women (median age, 31 years; age range, 24-70 years) said they experienced tension with the healthcare system; they felt unheard and poorly understood.
“Based on our findings, we identified key knowledge and care gaps that could be addressed with awareness and educational initiatives: patient education on vaginal blood loss, updated medical curricula, clear referral guidelines, and telehealth initiatives for patients residing far from hemophilia treatment centers,” the authors said.
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Ana Pascual, who discovered during childhood that she had inherited a mild form of hemophilia, stated “today, it is unthinkable that people in your daily life would not know that you have hemophilia, since it is important they know how to act if you have an accident.”
Ana discovered she had inherited hemophilia when she was 6 years old after a traffic accident occurred involving her father’s cousin. Her mother carried a gene variant of severe hemophilia A and her father had mild hemophilia A, of which he was unaware.
In addition, medical and scientific communities should be aware of the existence of severe cases of hemophilia in females, despite being rare.
Morgan DiPrima, a 19-year-old girl, has both a family-inherited FVIII mutation and a new mutation that resulted in her having severe hemophilia. According to her doctor, Stacy Croteau, MD, hematologist and associate director of the Boston Hemophilia Center, she has no detectable FVIII.
In Morgan’s case, her disease requires regular treatment for FVIII replacement like every male patient with severe hemophilia A. Living with a so-called “man disease,” she felt compelled to raise her voice to inform her colleagues about her condition.
“I basically explained that girls can get it too; that if I cut my finger, I’m not going to bleed to death; and I don’t bleed faster, I bleed longer,” she said. These and other details of Morgan’s story can be found on the Boston Children’s Hospital website.
d’Oiron R, O’Brien S, James AH. Women and girls with haemophilia: lessons learned. Haemophilia. 2021;27(S3):75-81. doi:10.1111/hae.14094
Arya S, Wilton P, Page D, et al. “They don’t really take my bleeds seriously”: barriers to care for women with inherited bleeding disorders. J Thromb Haemost. 2021;19(6):1506-1514. doi:10.1111/jth.15311
Bryant P, Boukouvala A, McDaniel J, Nance D. Hemophilia A in females: considerations for clinical management. Acta Haematol. 2020;143(3):289-294. doi:10.1159/000503889
Pascual A. Women with haemophilia also exist. Lancet Haematol. 2021;8(1):e18. doi:10.1016/S2352-3026(20)30409-9
Williams E. Breaking gender biases: what is it like to be a girl with severe hemophilia? Boston Children’s Hospital. July 30, 2019. Accessed October 25, 2021.