I have von Willebrand disease (VWD) and hemophilia B, a less common form of hemophilia that arises when a blood-clotting protein called factor IX is missing or deficient.

Hemophilia is often thought of as a condition that only affects men, but women can and do have it, too. Women with hemophilia often struggle to receive a diagnosis and treatment, sometimes resulting in life-threatening bleeding complications.

Kim Phelan, the chief operating officer at the Coalition for Hemophilia B, reached out to me after reading one of my columns. The coalition is a nonprofit organization dedicated to making the quality of life a focal point for individuals with hemophilia B through education, empowerment, advocacy, and outreach.

While conversing via Facebook Messenger, I discovered Kim and I are both passionate about the topic of women and hemophilia.

Excerpts of our conversation follow.

JL: What are common issues for women with hemophilia?

KP: We know that the genetics of hemophilia are much more complex than we used to think. It has become obvious that women can and do have hemophilia. The lack of recognition of an obvious condition can make it difficult for women with hemophilia to be taken seriously about their disease. We know so much more now, but a woman still has to see 1–4 hematologists to receive a diagnosis, or they infuse their son’s factor to treat themselves. Very frustrating!

How prevalent is hemophilia in women?

It is estimated there are five times as many female carriers as males with hemophilia. Another estimate is that 1/3 of carriers have [factor] levels under the normal range. A significant number of them have bleeding problems. Also, some carrier studies have noted that women with factor levels in the 40–60% range sometimes have bleeding problems and joint damage. The reason for this is unknown. Since it is now known that joint damage can start to develop undetected at an early age, it would be beneficial to identify affected women early enough to help prevent those issues.

How is the Coalition for Hemophilia B helping women with hemophilia?

We are doing a lot of advocacy work [for women], but more needs to be done. Progress, unfortunately, is moving at a snail’s pace. We have all been advocating for change, but it is still a huge problem today, affecting the quality of life for so many women.

Dr. David Clark, our chairman and researcher, often writes about women and hemophilia. We talk to pharma, hematologists, and the medical community regularly. We spotlight the stories of women in our newsletters and host programs and retreats for women affected by hemophilia. We also provide direct help. For example, we recently helped a mom who almost died as she was not receiving proper treatment no matter how many times she changed hematologists. She finally found a good [hematologist], and now after 35 years, she is getting factor on a prophy basis. [Prophy, or prophylaxis, refers to regularly administering clotting factor concentrate to prevent bleeding.]

What else would you like for people to know?

We know so much today about women and hemophilia, and still, women are not being heard or cared for properly. It’s unacceptable.

Thank you, Kim!