Interviews Reveal Women With Genetic Blood Disorders Share Uncertainties Regarding Diagnosis
Many women claimed to have been misdiagnosed initially and did not receive a correct diagnosis until after the disease had been discovered in some of their male relatives. This was particularly striking among hemophilia carriers.
The study, ““Everything Was Blood When it Comes to Me”: Understanding the Lived Experiences of Women with Inherited Bleeding Disorders,” was published in the Journal of Thrombosis and Haemostasis and was conducted by scientists in Canada.
Hemophilia A and B are both caused by genetic mutations that affect genes located on the X chromosome. Because women have two X chromosomes, they rarely develop hemophilia. However, they still may inherit a faulty copy of these genes from one of their parents and be carriers of the disease.
Women with genetic blood disorders, such as von Willebrand disease (VWD), or those who are carriers of hemophilia A or B, may experience heavy bleeding while menstruating or shortly after delivery. Increased bleeding also may lead to other complications, including anemia, which then contribute to lower overall quality of life.
“Despite the many symptoms that women with inherited bleeding disorders experience, no study has specifically sought to explore and understand the lived experiences of these women, nor the barriers to care that they may encounter,” the researchers wrote.
A team from the University of Toronto and colleagues reported the findings of a study that aimed to document the experiences and challenges these women faced.
Fifteen women, ages 24–70, with a confirmed diagnosis of a bleeding disorder were recruited across Canada. They all were identified by their own healthcare providers and by study investigators who were part of the Canadian Hemophilia Society.
Phone interviews were used to gather their opinions on several subjects, ranging from diagnosis to disease complications and healthcare challenges. All interviews were recorded and transcribed to identify recurring themes.
Seven women included in the study were hemophilia carriers, four had been diagnosed with a form of VWD, two had platelet disorders, and three had been diagnosed with other types of rare disorders. One of the women had been diagnosed with several of these conditions.
After analyzing interview transcripts, the investigators identified multiple recurring themes.
One had to do with the uncertainties surrounding the diagnosis of these disorders. Many women said they had difficulties distinguishing normal from excessive bleeding while menstruating, and were led to believe that heavier periods might be normal for them becausse they ran in the family.
“My grandmother and my mother both bled a lot. They just told me, “Well, you’re just a redhead like us, so it’s normal for you to bleed,”” one of the women said.
Participants also mentioned they initially were misdiagnosed and given inappropriate treatment for their disorder. Others, particularly those who were hemophilia carriers, said they received a correct diagnosis only after the disease had been identified either in their fathers or sons.
“I wasn’t diagnosed until my son was diagnosed with severe hemophilia […] Nobody [previously] knew anything, and they just finally had to burn my gums shut to stop the bleeding. So, things like that, when I was diagnosed and then it was like, okay, that’s why things like that happened to me growing up. It was kind of, you know, oh — it all made sense,” said one woman.
Excessive bleeding during menstruation, following delivery of a child, or certain routine medical procedures, including dental check-ups or gynecological exams, were noted by women interviewed in the study.
They also said that having a genetic bleeding disorder had a negative impact on their personal identity and overall quality of life, because it made them feel different from their peers, and limited their ability to achieve certain life goals and participate in normal daily life activities.
“When I was younger, I actually got bullied a lot because they would say, “Don’t touch [her] or she’ll bruise” or “We don’t want you on our team because you’re just going to get injured.”,” one of the woman said.
“We found that these women experience multiple uncertainties around their diagnosis. They conceptualize their bleeding by examining family histories, experience severe symptoms irrespective of their underlying diagnosis, and create identities around their bleeding symptoms, which influence multiple aspects of their life,” the investigators wrote.
The team now is planning to focus on identifying healthcare barriers and on treatment plans.