We Need More Studies of People With Mild Hemophilia
Instead of Powerball, I have won the rare bleeding disorder lottery. I have von Willebrand disease and hemophilia B, a less common form of hemophilia that arises when a blood-clotting protein called factor IX is missing or deficient. My diagnoses are rare within a rare community. I often feel like a science experiment.
Living with a rare disease is isolating. Many in the bleeding disorder community lack proper intervention, support, and treatment. Coming together on Rare Disease Day, on Feb. 28, is a way to improve awareness for our community.
After all, we are fortunate — of the approximately 7,000 known rare diseases, about 95% have no treatment.
And more of women with hemophilia, too
I would love to see more clinical trials and studies to include people with mild hemophilia. Studies on mild hemophilia, hemophilia in women, or people with multiple bleeding disorders seem to be infrequent or nonexistent.
“If you were to compare the amount of research on the male hemophilia population with that on women with hemophilia, there is a dramatic difference. Absolutely, they are underrepresented in the current scientific literature,” hematologist Katharine Batt, former medical director of Wake Forest School of Medicine’s Hemostasis and Thrombosis Center, told the health news site Healio.
“Part of the reason comprehensive data on women with hemophilia is limited is because clinical trials generally enroll only patients with severe hemophilia, a population that consists largely of men. Patients with moderate and mild hemophilia are often excluded,” she added.
Women often use the same clotting factor medication as men for treatment. Yet very few, if any, clinical trials have studied these medications in women. Do hormones make a difference? Body fat composition? Studies on the effectiveness and side effects of clotting factors in women with hemophilia should be essential to determining an optimal treatment plan.
Administered by injection instead of IV, the medication Hemlibra (emicizumab) has been a game changer for people living with severe hemophilia A. A clinical trial to determine Hemlibra’s safety and efficacy in those with mild hemophilia A is underway, but the study excludes women.
Current initiatives
A handful of studies are currently gathering data to help researchers and providers working in the bleeding disorder community. I would encourage those living with a bleeding disorder to take part whenever feasible.
One noteworthy initiative is the “International Registry on the Symptomatic Hemophilia A/B Carriers: The Pink Color of Hemophilia.” This worldwide registry aims to evaluate the incidence of hemophilia in women, including symptomatic carriers, their quality of life, and clinical outcomes. The registry is free and open for participants.
Increasing awareness
Awareness of bleeding disorders is increasing, but we have a long way to go. For example, a review of published studies indicates that an estimated 5-24% of women with heavy menstrual bleeding could possibly have a bleeding disorder. Identifying these women starts with the gynecologic community. Many suffer for years before their diagnosis.
According to the CDC, the number of females treated at hemophilia treatment centers has almost doubled over the last decade, from 8,516 in 2012 to 15,440 in 2020. More women being diagnosed and treated — that’s a win.
Maybe I will go and buy that Powerball ticket after all.
Note: Hemophilia News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Hemophilia News Today or its parent company, Bionews, and are intended to spark discussion about issues pertaining to hemophilia.
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Comments
Terry Preshaw
I agree, Jennifer. My carrier mother, Fran Thompson, a founder of Hemophilia Association of New Jersey (HANJ), nearly bled to death and suffered permanent damage when her surgeon ignored her carrier status and was overwhelmed by her relentless, unstoppable bleeding during an operation to correct incontinence. Had she had the diagnosis of "Hemophiliac" and had adequate studies been performed, he never would have made the life-threatening mistake he made which was not treating her with clotting factor prior to surgery. We could not even sue him for malpractice because the standard of care was: no need to do anything for a "carrier".
Jennifer Lynne
Thank you for joining the conversation, Terry. I am so sorry to hear about your mom. Your story breaks my heart - it should have never happened. We have come a long way, but we have a long way to go—hugs and much love to your mom.