In the past, no one believed women could have hemophilia. The medical community assumed that one X chromosome would compensate for the other.
Doctors now know about the process of duplicate X chromosome inactivation, called “lyonization.” As the inactivation process is random, some female carriers don’t have hemophilia and some do. This understanding is critical, particularly for the women who fight to get appropriate diagnosis and treatment.
Knowledge to practice
Multiple researchers have discussed a significant lag from knowledge to practice in the medical field. Medical professionals need time to incorporate current information into their daily practices.
This phenomenon affects the diagnosis and treatment of women with hemophilia.
Four years ago, I was looking for a new local hematologist to work with my Hemophilia Treatment Center (HTC), which was over five hours away. I met a female hematologist and explained I had mild hemophilia with factor levels at 20 percent and needed to infuse when I had bleeds or surgery.
The doctor, who was near retirement age, said it would be a “shame” to “waste expensive factor” on me when I had 20 percent “good factor” of my own. I responded that if a man with severe hemophilia A is brought up to 100 percent factor prior to surgery or when injured, why would she consider leaving a woman at a mere 20 percent? She was unable to answer this question.
Unfortunately, I have had other experiences. I spoke with my hematologist at my former HTC to ask about a pharmacokinetic study prior to major surgery. These studies draw blood, administer a clotting factor, and then track data over hours to determine true half-life. I wanted to understand my own half-life just in case there were surgery complications. The hematologist denied the study, saying it was a “waste of expensive factor” on a woman who doesn’t do a daily prophylactic treatment. I hemorrhaged three to six weeks post-surgery and needed over 60,000 units of factor. Participating in the study could have helped indicate the dose I need.
I have heard countless stories of women who knew they were bleeding and were denied infusions. The most common reason was they were not believed. It has been my experience that doctors do not recognize that women can have the same bleeding issues as men. They were not current with the latest medical research.
Many symptoms reported by women can be resolved with access to clotting factor replacement products. Women can hemorrhage internally post-surgery or after childbirth. Women with head injuries often go without treatment. Some experience joint pain and swelling.
For me, the most eye-opening moment came when I met a young man with Factor VIII levels 3 percentage points above mine. He appeared embarrassed to tell me his numbers were higher.
This young man had access to care his entire life. The care I fight for. He told me he had mild hemophilia A, was diagnosed as a child, and always received factor when needed. The medical professionals knew men get hemophilia. It was simple.
Providers must understand that both men and women get hemophilia and need appropriate treatment plans and care. Men and women with identical factor levels should not experience treatment disparities.
Medical professionals are starting to understand that women have hemophilia and need appropriate treatment. This understanding is spreading, albeit slowly. The World Federation of Hemophilia, Hemophilia Federation of America, and the National Hemophilia Foundation all have statements regarding women and bleeding disorders.
How long is the lag going to last? Pioneering doctors should encourage their colleagues to treat women appropriately. Medical professionals on the front lines — ER doctors, primary care physicians, and dentists — will make a difference in properly diagnosing women.
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 Services, and are intended to spark discussion about issues pertaining to hemophilia.