High Rate of Bone Problems in Female Hemophilia Carriers

In the past, researchers have observed a relationship between hemophilia and bone-related issues. However, while this observation is helpful, there have been few studies examining the prevalence of bone problems in those who are carriers of hemophilia (people who have a change in only one gene in a pair, where the other is working normally). According to Hemophilia News Today, a new research team sought to understand the rates of bone issues in female hemophilia carriers, as well as individuals with von Willebrand disease (VWD), a bleeding disorder. 

To begin, the research team collected insurance data from over 70M people over a 21-year period. Through this, the researchers found 940 hemophilia carriers, as well as 19,580 individuals with VWD. A majority of individuals were between ages 18-50, with 38% being 51+ and 6.5% being under 18 years old. The research team then examined how many individuals faced bone issues such as fracturing, osteoarthritis, or osteoporosis. Findings show that:

  • Individuals with von Willebrand disease were more likely to experience bone issues than the general population.
  • Compared to healthy controls, female hemophilia carriers were much more likely to have osteoarthritis, bone fractures, and osteoporosis. In fact, these conditions occurred nearly 2x more in carriers. 
  • Risk factors for bone health problems – such as smoking cigarettes, vitamin D deficiency, NSAID use, and being obese – were also more common in carriers and individuals with VWD.

Altogether, the findings do highlight a correlation between bone problems and hemophilia carriers. However, more research is needed to determine the validity of the above findings.

Interested in learning more? Check out the research published in Haemophilia

About Hemophilia

Normally, when you bleed, blood cells clump together and clot. This helps to close a wound and stop bleeding from occurring. People with hemophilia, a rare genetic bleeding disorder, lack enough clotting factors to help the blood clot. As a result, people with hemophilia experience easy bruising and bleeding, as well as longer bleeding than normal. There are two main forms of hemophilia: A (caused by F8 gene mutations) and B (caused by F9 mutations). Because these are inherited in an X-linked fashion, hemophilia is significantly more common in males; females are usually carriers. Associated symptoms can include:

  • Large and deep bruises
  • Excessive, prolonged bleeding from cuts, injuries, vaccinations, surgeries, or dental work
  • Irritability (in infants)
  • Hematuria (blood in the urine) or bloody stool
  • Joint pain and swelling
  • Random nosebleeds
  • Neck pain (emergency symptom – for these symptoms, see a doctor immediately)
  • Intense headache (emergency symptom)
  • Prolonged, heavy bleeding (emergency symptom)
  • Sudden pain, warmth, or swelling in large joints (emergency symptom)
  • Nausea and vomiting (emergency symptom)
  • Extreme or debilitating fatigue (emergency symptom)
  • Double vision (emergency symptom) 

Learn more about hemophilia.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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