It’s time to change how we classify hemophilia severity

While riding a bus at the first hemophilia conference I attended, I met a young man who had mild hemophilia, just like me. Unlike me, he’d been diagnosed close to birth. Then he shared his factor VIII levels; shockingly, they were higher than mine.

I sat in disbelief. I’d always thought that men with mild hemophilia must have lower factor VIII levels than me, as most of them seemed to access a diagnosis and care much more quickly and easily.

I was very wrong.

The surprises that weekend continued. I met numerous men with moderate and severe hemophilia, many of whom shared that they hadn’t experienced a bleed in years. I once went 14 months without a bleed. Once. Usually I have six to 12 a year.

Yes, you read that correctly. I have mild hemophilia, I am on prophylaxis (regular preventive treatment) to help control bleeding, and my annual bleed rate is still six to 12. This year, I’ve had five bleeds since February; thankfully, three were minor and resolved in one day.

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The goal for people with severe hemophilia is an annual bleed rate of zero. Many realize this goal. Unfortunately, I face unique challenges because of the gene variant that causes my hemophilia, which complicates my treatment a bit.

I’ve said it for years: The system used to classify hemophilia as mild, moderate, or severe might’ve made sense when it was developed in the 1950s, but it no longer seems right. Currently, this classification is based on a person’s factor VIII levels, not the severity of their bleeding. A factor VIII level of less than 1% is considered severe, 1%-5% is considered moderate, and 6%-40% is deemed mild. I believe this system is archaic at best and downright dangerous at worst.

Bleeding genotype vs. bleeding phenotype

When I started meeting other people with hemophilia, it quickly became clear that factor VIII levels and bleeding severity don’t correlate for the majority of us. Medical professionals often discuss two different terms. First, there’s our bleeding genotype, which refers to our specific gene variant. There are thousands of variants that can cause hemophilia. Our genotype directly influences our factor levels.

We also talk in our community about bleeding phenotype. This term refers to people’s actual bleeding experiences, including the frequency and severity of bleeds, and doesn’t always correlate with factor levels.

I’ll often describe my bleeding experience by saying, “I have a mild bleeding genotype and a severe bleeding phenotype.” My hemophilia treatment center defines a severe bleeding phenotype as a person with mild or moderate hemophilia who continues to bleed in spite of prophylaxis. However, this definition isn’t consistent across providers or treatment centers.

Furthermore, there are people with a severe hemophilia genotype who rarely bleed and describe themselves as having a mild bleeding phenotype. It can all be very confusing.

I was thrilled to see a recent article published in the journal HemaSphere that discusses the need for an updated hemophilia classification system that takes bleeding phenotype into account. The researchers noted that, under current criteria, “more than 20% of patients with mild or moderate hemophilia A and B … do not fit the definition of [mild and moderate bleeding disorders] previously proposed by [an international working group] … which requires the complete absence of any severe bleeding manifestation.”

The rest of the team’s findings are worth reading.

Reclassification would bring validation

It’s both validating and strange for me to hear the debates about reclassifying mild, moderate, and severe hemophilia. Because I was diagnosed later in life, at age 45, I still find myself fighting impostor syndrome. Taking a moment to browse through photos of my bleeds on my phone usually clears that up!

As a woman with mild hemophilia, I’ve had to fight so many times to be heard and understood, and to access care. At times I’ve gotten care only to lose it when transitioning to different providers. I’ve started over many times with new documentation to prove my bleeding.

It’s crazy to me that in every proposed new classification system I’ve read, I’d no longer be considered a person with mild hemophilia; I’d be severe. It’s almost unimaginable. How strange and validating it would be to have an official label of severe hemophilia after more than 50 years of struggling. Perhaps a label that reflected my true bleeding tendencies would allow me to find consistent quality care, no matter the healthcare provider.

Having validity and acknowledgment is critical, particularly when I run into new providers at medical offices or emergency rooms. I cannot be fighting with or educating providers when I need urgent care; they must move quickly to ensure my safety.

I’m thankful for the continued conversation about reclassifying hemophilia severity and hope it progresses quickly. It’s overdue.

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 seek the advice of your physician or another qualified health 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.