Women and Bleeding Disorders

Bleeding disorders have traditionally been associated with males.  But girls bleed too!
Why do people think that only boys bleed? Probably because the most common and most famous bleeding disorder is hemophilia. Hemophilia affects significantly more boys than girls, though it doesn’t affect boys only.   Hemophilia is carried recessively on the X chromosome. A recessive gene doesn’t cause a disease if there’s a good copy of the gene around.  But hemophilia is on the X chromosome–known as a sex chromosome.  These chromosomes determine sex, and some other stuff too.  Inheriting one X and one Y results in a male child.  Inheriting two X’s results in a female child.  Since boys only have one X, if their X is affected by the hemophilia gene, they will have the disorder. However, a woman can have an affected X chromosome and have no symptoms, as long as her other X takes care of the missing genes.
But, wait? Shouldn’t that mean that there are no female bleeders? At least no female hemophiliacs? Well, there are female hemophiliacs, and here’s why.  First, the obvious explanation: what if a girl has the gene on both of her X chromosomes?  Then she would have the disorder.  Okay, maybe there are female hemophiliacs, but that would be really, really rare for both of her parents to give her the gene, right?  It’s not as rare as you’d think, but that’s also not the only way for a girl to have hemophilia.
In 1959, Susumu Ohno noticed that in an X chromosome pair, one of them was bigger and one looked small, dense and compacted. In 1961, a scientist named Mary Lyon used this information to propose that one got inactivated. If all the information was duplicate, why did it need two?  The Lyonization Hypothesis–or X-inactivation– explained many previously unexplainable phenomena, including female hemophiliacs.  What if the body inactivated the “good X?” This is what sometimes happens. As a result, some females that only carry one copy of the gene can show anywhere from mild to severe bleeding symptoms.  Sometimes these women are referred to as “symptomatic carriers.”  This term is generally not preferred. It’s kind of demeaning when you think about it, as if they somehow aren’t “real hemophiliacs.”  If they show all of the signs of hemophilia, then they are hemophiliacs, and gender has nothing to do with it.
Then, genes don’t behave.  They mutate.  So, just because a family hasn’t had any hemophilia in the past, doesn’t mean it can’t appear by mutation.  Double mutations can occur too! At Camp Little Oak, we refer to these as our special Teenage Mutant Ninja Turtles!
Furthermore, some bleeding disorders are not linked to gender at all.  Von Willebrand’s Disease, another common disorder, is autosomal. Autosomal traits are inherited on a non-sex chromosome, and affect both genders equally.
Women have bleeding disorders, too.  Their bleeding disorders unite them with male bleeders, but also present unique challenges associated with menstruation and childbirth.  The time has come for women to be accepted in the bleeding disorder community, just like men.
At Camp Little Oak, we seek to make a special place for female bleeders.  We teach our girls to be advocates for women, with or without a bleeding disorder.  Having a bleeding disorder is challenging enough. Anyone with a bleeding disorder needs to learn to stand up for their own care, and for their own needs. This need is even bigger for girls who have the stigma of not being “real bleeders.”

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