Women Need Early Factor Level Testing

Women Need Early Factor Level Testing
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Not all medical visits are created equal. Sadly, or perhaps horrifyingly, some women must fight to get access to the most basic of care, while others are fortunate enough to access it easily. While this is reality, it is not OK. It is imperative for the health of women in the hemophilia community that gender discrimination be put aside.

Most boys born into families with known cases of hemophilia are tested shortly after birth for factor VIII deficiency and at the six-month mark for factor IX deficiency (FIX does not reach its normal levels until that age). This is done so that the newborn male child will be protected, should a bleeding incident occur. 

In contrast, girls born into families with known cases of hemophilia — even those known to be obligate carriers of hemophilia — may go years without a basic blood screening for factor levels. This is not an incredibly expensive test, yet it can be life-saving. It is critical for parents to know if their female children have low factor levels for the same reasons it’s critical with male children.

Finding out late

My sister was 5 and I was 10 when we were first tested. At the time our parents were told that, while our factor levels were lower than average, we had enough factor for hemostasis and would be fine in an emergency. That was in the ’80s, when they lacked the knowledge to know we actually did need factor replacement products. I am so grateful the doctors got it wrong — it saved us both from being exposed to tainted factor products.

Today my sister and I both know we have mild hemophilia. Because we are aware, we can be proactive and protect ourselves in accidents, before major surgeries, or if we have excessive bleeding for any reason. We are both lucky. We are connected to hemophilia treatment centers and we both have hematologists who believe us and support women with mild hemophilia.

Sadly, that is not always the case. Just this past week I heard from two different women who were wondering whether or not they had hemophilia. BOTH of these women have sons with hemophilia. Both of them have been DENIED a test of their own factor levels, despite bleeding issues. 

When I interviewed Carol Kasper for Hemophilia News Today, she emphasized the need for every female connected to a male with hemophilia to have their factor levels tested. Why is it that a highly esteemed expert understands and promotes this, and yet multiple mothers of hemophiliac children are denied a basic test to determine if they also have hemophilia?

I was in my 30s when I learned I had low factor levels. My sister was in her 40s. Some women report they are in their 60s when they finally get the testing and care they need. This is not OK.

Asking for a factor assay test

If you are a woman who is directly related to a male with hemophilia, your own factor levels should be tested as a basic standard of care, even if you do not have significant bleeding issues. Sometimes individuals with mild hemophilia have a lot of bleeding and other times they do not. Reports of bleeding tendencies are not a definitive way to rule out factor deficiencies; a blood test is needed.

Ideally, at the moment a male child is diagnosed with a bleeding disorder, medical professionals would immediately encourage all women connected to that male (mother, sister, aunt, perhaps even grandmother) to be tested as well. This is for the safety of all connected women. This does happen at some hemophilia treatment centers and with some physicians, but not with all.

If you are a woman who has a close relative with hemophilia and have been denied a factor level test, ask again. Your doctor may not understand that women can also have hemophilia. Explain to your doctor that due to a process called “Lyonization” or “X-inactivation” women can also have hemophilia. If the medical professional still denies the testing, consider asking them to note in your medical record that your request for the test was denied and ask them to list the reasons. Often the request to document a refusal is a powerful tool in discussing the necessity of testing.

Just like males with hemophilia, the earlier a female is diagnosed the better. It is important that our girls with hemophilia are found, diagnosed, and properly cared for. We want them to live their best lives possible. They deserve to be protected and safe from the beginning of their precious lives.

While women are learning to advocate for testing, ideally medical professionals must take the lead to educate and initiate.

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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 Services, and are intended to spark discussion about issues pertaining to hemophilia.

Shellye Horowitz is a licensed school counselor and school administrator with over 25 years of experience in the field of education. Shellye has strong ties to the bleeding disorders community with six traceable generations of hemophilia A in her family.
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Shellye Horowitz is a licensed school counselor and school administrator with over 25 years of experience in the field of education. Shellye has strong ties to the bleeding disorders community with six traceable generations of hemophilia A in her family.
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  • institutional bias, progress, factor level testing, diagnosis
  • institutional bias, progress, factor level testing, diagnosis
  • institutional bias, progress, factor level testing, diagnosis

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2 comments

  1. Darlene says:

    The secondary issue is actually getting treatment once you have gone through the burden of acquiring testing. It took 3 years and 3 doctors to have my granddaughter’s factor levels even tested with a severe brother and mild mom plus symptoms. Even at factor levels of 30%, doctor #3 wouldn’t provide an emergency dose. Said he needed genetic testing but wouldn’t order it.

    Doctor #4 did the genetic testing but we found out only really because he was terrified she may have inherited the Factor V-Liden from her dad and he wouldn’t be able to stick her on birth control.

    They live 2.5 hrs from the nearest HTC, their local hospital asked they not come there and we still had to DEMAND an emergency dose to have on hand for her.

    She doesn’t get annual appointments and we worry every day about what is actually happening to her joints but feel fortunate to have an emergency dose of factor to save her life if she gets a major injury and have an Emergency Plan with the local EMS so she will receive treatment if her parents aren’t available.

    • Shellye Horowitz says:

      It is always so disheartening to hear stories like these. HTCs are federally funded programs and should be tracking all people, male and female, with diagnosed bleeding disorders. I am so sorry to hear that your granddaughter is not being regularly followed by the local HTC.

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