Doctors offer tips to improve care for women, girls with hemophilia
Education, empowerment key to managing disease
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By educating and empowering patients and their families, clinicians can help improve access to accurate diagnoses and care for women and girls affected by hemophilia.
That’s the argument made by a pair of doctors in Belgium in a paper titled, “How I Identify and Diagnose Carriers of Hemophilia and Women and Girls with Hemophilia.” The paper was published in Blood.
Hemophilia is a bleeding disorder marked by low levels of certain clotting proteins: factor VIII in hemophilia A and factor IX in hemophilia B. Both hemophilia A and B are caused in most cases by mutations affecting genes on the X chromosome, one of the two sex-determining chromosomes. Typically, females have two X chromosomes, while males have one X and one Y chromosome.
Because hemophilia is an X-linked disease, it has traditionally been thought of as an exclusively male disorder. The dogma has been that males with a mutation have hemophilia, while females with one mutation and a second healthy gene are carriers, who may pass the mutation to their children but do not experience hemophilia symptoms.
But this simplistic view doesn’t hold up to reality. There are women and girls who carry mutations and have clotting factor levels low enough to meet diagnostic thresholds for hemophilia. And even carriers who don’t meet diagnostic criteria may nonetheless experience bleeding symptoms.
Tips for doctors
As scientists and clinicians have increasingly come to understand that hemophilia doesn’t only affect men and boys, there’s been a growing push to improve access to diagnostics and treatment for women and girls affected by hemophilia. The two doctors outlined tips for how clinicians can improve care for females affected by hemophilia in day-to-day practice.
To illustrate their points, the doctors presented several example cases, such as one in which a girl was found to have abnormal clotting activity on routine testing prior to surgery, and a woman who had a known family history of hemophilia and wondered about their own risk. In these cases, the doctors outlined the step-by-step evaluation process, including questionnaires about bleeding history, factor activity tests, and genetic tests.
The doctors also emphasized the importance of educating patients about how hemophilia can manifest in families and of collecting as much detailed information about family history as possible to construct a pedigree (a type of genetic family tree that geneticists use to track how mutations are passed from parents to children).
As an example, they pointed to the case of a 22-year-old man who was receiving care for hemophilia. During the process of reviewing and updating his family pedigree, doctors found he had two sisters who did not know if they were carriers for the disease. Following this incidental discussion, the man was able to talk with his family about their options for testing.
“The patient was informed that his two sisters could be carriers and was encouraged to invite them to contact the [healthcare center] for counseling, evaluation and testing,” the researchers wrote. “This simple intervention illustrates how systematic pedigree review can extend the benefits of specialized hemophilia care beyond the individual patient to the ensure family and should become an integral component of routine clinical practice.”
Education and empowerment can also be key tools when caring for patients in resource-limited settings. The doctors shared the case of a woman who sought their counsel because she had a brother with a diagnosis of hemophilia, and she had lost two sons due to excessive bleeding following circumcision. The woman was not able to access formal diagnostic testing, but her history strongly indicated hemophilia. The doctors said it’s important in these situations to be frank about what is and isn’t known, emphasizing the practical implications.
“Healthcare professionals should avoid providing false reassurance simply because laboratory confirmation cannot be obtained,” they wrote. “Instead, counseling should acknowledge the diagnostic uncertainty while emphasizing that she may be at increased risk of bleeding and that appropriate precautions are justified whenever invasive procedures or pregnancy are anticipated.”
The scientists called for continued efforts to improve access to care for women and girls affected by hemophilia.
“Equity in hemophilia care requires recognition that women and girls deserve access to diagnosis and treatment irrespective of where they live,” they wrote. “Expanding access to laboratory testing, genetic diagnosis and comprehensive hemophilia care for women in [resource-limited settings] should remain an important global health priority.”
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