When it comes to genetic tests for hemophilia, don’t forget Grandma

Hemophilia is sometimes a surprise in families. Research shows that approximately 30% of cases of hemophilia A and B are sporadic, meaning there’s no known family history.

“This happens when a new alteration in the F8 or F9 gene occurs by chance in an egg cell or sperm cell,” the Haemophilia Foundation Australia explains. However, “sometimes this gene alteration has occurred a generation or two earlier and the family has not known about it until they are tested.”

Medical professionals can determine this through genetic testing. When a baby is diagnosed with hemophilia, most providers will test the baby’s mother to check for a family history. The mom could unknowingly be a carrier. But after speaking with numerous community members at bleeding disorders conferences, I’ve learned that genetic testing isn’t always offered to other relatives.

Yet, as a 2024 article published in the Journal of Multidisciplinary Healthcare notes, “Potential hemophilia carriers include any biological daughter, sister, mother, maternal grandmother, aunt, niece, or female cousin of a carrier of hemophilia, and any biological mother of a child with hemophilia but no known family history of hemophilia or carriers of hemophilia.”

Recommended Reading

July 1, 2024 Columns by Allyx Formalejo

Envisioning my daughter’s life as a hemophilia carrier

Testing can be scary

Deciding whether to undergo genetic testing for hemophilia can be difficult. Many carriers struggle with feelings of guilt after discovering they have passed down the gene variant that causes hemophilia. In an article published in the Journal of Genetic Counseling, one woman explains, “My mother blames herself, so she feels she is the cause of me [being a carrier] and says, ‘Oh no, should we pass this on?'”

I’ve heard grandmothers talk about how awful they feel that they unknowingly passed a gene variant to their daughters. The daughters then passed it to their sons, who developed severe hemophilia. Even though these sweet women had no idea they were carriers, they blamed themselves. They felt responsible for their sons’ and grandsons’ suffering. Some mothers and grandmothers have said they wish they hadn’t known they were carriers. The intense guilt was a lot to bear.

Knowledge is important

When discussing the value of hemophilia carrier testing at conferences, I’ve heard several grandmothers say it seems silly to test at their age. Many are in their 60s or older. I understand why they might feel this way, especially given the feelings of guilt some women experience.

However, I believe it’s important for anyone who is a potential carrier to be tested. Even carriers of the condition can experience excessive bleeding, and having a proper diagnosis can help them ensure they receive proper care in an emergency.

Hemophilia of Georgia notes on its website that factor levels don’t always correlate with bleeding in carriers, adding, “Their bleeding symptoms include excessive bleeding from mucous membranes in nose and mouth, heavy menstrual bleeding, bleeding after dental work, surgery, or childbirth, and less often joint bleeds.”

As a community member, I often worry about people who don’t know they are carriers. My sister and I weren’t on the radar until we were officially diagnosed when we were in our 40s, and access to proper care changed our lives. Before, I underwent surgeries without a plan, and healing was slow and wrought with many issues. Surgeries I managed with proper hemophilia care proved easier to navigate and recover from.

For these reasons, I encourage grandmothers of people with hemophilia to consider undergoing testing. As we age, we face a greater risk of medical issues, such as stroke, internal bleeding, ulcers, and dental issues, many of which can hinder blood clotting. Being diagnosed with hemophilia or identified as a carrier would help guide appropriate care and keep Grandma safe.

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 consult your physician or another qualified healthcare 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, and are intended to spark discussion about issues pertaining to hemophilia.