Diagnostic Terms for Women with Hemophilia
I am not merely a carrier of hemophilia. I am certainly not an asymptomatic carrier of hemophilia. I am not even a symptomatic carrier of hemophilia. I am a woman with mild hemophilia. Yet, each one of these terms has been used in my medical records in my lifetime. Some of these terms are diagnostic contradictions.
I believe in the critical necessity of providing girls and women who carry the mutation that causes hemophilia with the most accurate diagnosis possible. Each will be different, which is why it is so critical that the terms are not seen as interchangeable. Proper diagnosis and terminology are the first steps toward ensuring appropriate treatment, on a daily basis and in emergency situations.
Understanding the terminology
In the not-so-distant past, it was believed women could not have hemophilia. Medical professionals did not understand a process called lyonization. They believed the “good x” chromosome would compensate for the “mutated x” and women would not manifest with hemophilia. As such, women were labeled as “carriers” if they had the mutation and warned there would be possible implications if they were to have sons one day and pass along the mutated gene.
As medical professionals started seeing women who were “carriers” manifest with significant bleeding issues, the diagnosis changed. The doctors referred to these women as “symptomatic carriers.” Women were now in one of two categories: “carrier” or “symptomatic carrier.” While symptomatic carriers were at one time thought to be quite rare, researchers started discovering some carriers had bleeding issues. The term “symptomatic carrier” is only used for women who carry hemophilia — it is never used for men who have the disease.
The World Federation of Hemophilia (WFH) labels women with 40 to 60 percent of the normal amount of factor and who experience bleeding issues as “symptomatic carriers.” Women with lower levels are diagnosed with “hemophilia,” just like the men. This is a shift from labeling every carrier with symptoms as a “symptomatic carrier.” I believe this shift creates more accurate diagnoses and increases access to appropriate care.
Once the term “symptomatic carrier” of hemophilia began to be used, people also began to use the opposite term to describe carriers without issues. They were referred to as “asymptomatic carriers.” Many women who are symptomatic carriers have reported that when they go to a physician and say, “I am a symptomatic carrier of hemophilia,” the physician will sometimes hear, “I am an asymptomatic carrier of hemophilia.” This is a dangerous misunderstanding that could prevent a woman from receiving proper treatment.
The WFH has specific diagnostic guidelines. They have clarified that any person — male or female — who has factor below 40 percent has hemophilia (mild, moderate, or severe, depending on the actual numbers). In the past, men and women with the same factor levels would receive different diagnoses and different levels of care. Men were labeled as having “mild hemophilia” and were given access to factor products more readily than women labeled as being “symptomatic carriers.” I am thrilled that as diagnostic accuracy increases, so does treatment equity. We still have a long way to go.
Medical professionals as allies for women with hemophilia
Some medical professionals are struggling to shift their narrative that women cannot have hemophilia. While they are providing basic treatment, they need to join their peers who provide comprehensive care with the understanding that treating women with hemophilia is quite different than treating men. Women bleed more — most bleed monthly (some report they bleed constantly). Women with hemophilia need assistance from highly trained and female-sensitive hematology experts in order to navigate their bleeding issues.
A journey of labels
I was first labeled a “carrier” as a child after an inaccurate factor level test around 8 years old. Later, “asymptomatic carrier” was used, despite bleeding issues. In my 20s, I was now a “symptomatic carrier” when my factor levels were tested for the second time in my life. While my diagnosis changed, I was not given any counseling, guidance, or treatment plans.
Almost 20 years later, I would start to infuse factor replacement products for surgical procedures and injuries when it was obvious I was bleeding. I was still labeled “symptomatic carrier.” I had a hysterectomy at 45. The operation resulted in significant post-surgical hemorrhaging and consumption of large quantities of replacement factor VIII to control bleeding. My diagnosis changed to “mild hemophilia.” I was not informed of the change, but found it in my medical record after a billing dispute. My diagnosis morphed from “symptomatic carrier” to “mild hemophilia,” so my insurance would cover the cost of the replacement factor products I needed.
Though the change for me was unceremonious, it made a huge difference. I have mild hemophilia. I have had bleeding issues my entire life. The proper diagnosis was both validation of my past and a critical light to guide my future treatment.
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.