Time to End a Sex-Based ‘Truism’

Mild hemophilia diagnosis for women helps validate symptoms
Author: Marion A. Koerper, MD

Women do have mild hemophilia, in spite of what most physicians were taught in medical school. In fact, the distinction between “symptomatic carrier” and “mild hemophilia” is important. (See “The Carrier Barrier.") “Carrier” is a genetic term that means a person carries a gene for a certain condition, which is not apparent. If a woman carries a gene for hemophilia on one of her two X chromosomes, she might not show symptoms, yet she can have a child with hemophilia. “Symptomatic carrier” is a term that has no meaning for healthcare providers and insurance companies, since carriers by definition are not symptomatic.

But we know that a woman carrying the hemophilia gene can have symptoms. The severity of her symptoms depends on how low her factor VIII (FVIII) or factor IX (FIX) level is. For instance, a normal factor level is 50%–150%. If a woman’s factor level is within the mild hemophilia range—6%–49%—she will have relatively mild bleeding symptoms as a young girl, usually only bleeding with moderate to severe trauma or surgery. However, when she starts menstruating, the bleeding may be long and heavy because of her low factor level. Thus, she is having symptoms of mild hemophilia. She may need treatment, such as DDAVP for mild hemophilia A, or recombinant FVIII concentrate for more serious bleeding and trauma, and before and after surgery. For hemophilia B, DDAVP does not work, so she may need recombinant FIX concentrate.

Insurance will cover these expensive products for those with hemophilia, but not for those who are carriers—because by conventional definition, carriers do not bleed. That means that women must have a hemophilia diagnosis for these products to be paid for by insurance.

Women who suspect they have a bleeding disorder should get tested and be aware of their factor level, so they know whether their bleeding symptoms are due to mild hemophilia or another cause, such as fibroids. Also, if their factor level is below 50%, they should request a referral to a hemophilia treatment center (HTC) so they can learn which replacement product is right for them. HTCs can advise the surgical team on bleeding prevention and offer referrals to gynecologists who treat women with bleeding disorders.

A mild hemophilia diagnosis does not change who a woman is, but it validates the symptoms she has been experiencing and ensures appropriate treatment

Marion A. Koerper, MD, is medical advisor to the National Hemophilia Foundation.