Women & Hemophilia: Not Just Your Brother’s Disease

Any girl who has grown up with a brother, father or other male relative with hemophilia no doubt knows the drill. Safety first. Treat bleeds immediately. Always have an emergency plan.

But how many realize these same words of wisdom could also apply to themselves?

Historically males with hemophilia have gotten all the attention—and rightfully so, given they are generally the ones most severely affected. However, that might be changing as researchers have begun to discover that some women may be more than simply genetic carriers who can pass the disease on to their sons—they can experience mild symptoms as well.

Genetic Tic-Tac-Toe

Trying to explain the inheritance of hemophilia may feel like a complicated game of tic-tac-toe but it essentially all comes down to one thing: Chromosomes.

All of us inherit one chromosome from each parent with females getting two “X”s—one from mom and one from dad—and males getting an “X” from their mother and a “Y” from their father. Clotting factor genes are carried on the “X”, so it’s easy to see if a boy inherits an “X” with hemophilia from his mother he’s got the disease. (Given that he inherits the “Y” chromosome from his father he would not get hemophilia even if his dad has it because hemophilia only travels on the “X” chromosome).

Females, on the other hand, are a little trickier. Girls who have a father with hemophilia will always be a carrier because they inherit his affected “X” chromosome. If the mother is a carrier, a girl has a 50% chance of also being a carrier, depending on whether she inherits the affected “X” or the regular “X” chromosome.

Although highly unlikely, there is another scenario as well. If a woman’s father has hemophilia and her mother is a carrier (and she inherits the affected chromosome) she could actually have full-blown hemophilia.

Life As A Carrier

For the majority of women who are genetic carriers it won’t be a big surprise, as they will already have male relatives with hemophilia. In fact, 70% of cases of Hemophilia A (the most common type) are inherited while only 30% come from a spontaneous genetic mutation.

Carrier status can be determined in several ways, ranging from studying the family tree to DNA testing. A genetic counselor can help determine the right method based on the particular situation.

Typically, carriers have about half the amount of coagulation factor as non-carriers do but that is still enough to achieve normal blood clotting. About 10% of carriers, however, have less than half and this is when problems can arise with abnormal bleeding.

“If women who are carriers experience symptoms, they tend to surface in adulthood,” says Eduardo Lim, M.D., a board-certified hematologist and oncologist at St. Vincent Medical Center in Los Angeles, California. “The most common are bleeding joints and muscles. Others include abnormal bleeding after injury or surgery, easy bruising, nosebleeds and bleeding after dental work.” A woman’s life also involves menstruation and therefore, she could be at risk for more severe menstrual bleeding (menorrhagia).

With mild hemophilia, if treatment is needed at all it would likely involve injecting the hormone desmopressin acetate (DDAVP) into a vein to encourage the release of more clotting factor to stop the bleeding. More serious injuries could require an infusion of clotting factor, either from donated blood or recombinant factor made by a pharmaceutical company.

Women with symptoms should be sure to contact a doctor and perhaps even a Hemophilia Treatment Center to learn more and help set up an emergency plan just in case.

Getting Ready for the Stork…

Even if a woman is a carrier for hemophilia there’s every reason to expect a healthy pregnancy and baby. There are, however, some things to keep in mind:

• If there is any suspicion of hemophilia in the family, a woman should get tested to find out her carrier status before getting pregnant.

• If the mom-to-be is already working with a Hemophilia Treatment Center team, the OB/GYN should coordinate care with these specialists as well.

• Prenatal diagnosis is a real possibility to think about. A chorionic villus biopsy can be performed early in the pregnancy to determine whether or not the baby has hemophilia. Additionally, non-invasive methods such as an ultrasound can be used to determine the gender of the fetus in the first trimester. If it is a girl, no additional testing needs to be considered.

• If the test results come back positive for hemophilia, the baby will need to be delivered by Caesarean section or run the risk of bleeding in the brain which can lead to cerebral palsy or death.

• Following birth a woman may experience post-partum bleeding and need an infusion of clotting factor.

• If the baby has not already been tested prenatally, testing should be done using blood from the umbilical cord.

• The parents should also consult with a pediatric hematologist for advice regarding vaccinations and circumcision.

Life as a carrier can raise lots of questions but living life to its fullest is certainly possible. Just look around the dinner table for proof.