Diagnosing Female Hemophilia

Hemophilia is a genetic disorder caused due to a mutation in the genes. This disorder can be inherited or can be the result of a new mutation. Hemophilia is more prevalent in men than women, since it is an X-linked recessive trait. It affects approximately 1 male in 5000. . Although statistics for the count of hemophilia in men have been tracked and documented, there are no conclusive statistics which reveal the number of women who have been affected with it.

In people suffering from hemophilia, the chromosomes are deficient in blood clotting protein, which disables the blood from thickening and coagulating during an injury, bruise or trauma. There are 24 pairs of chromosomes in humans. Out of which one pair is called the sex chromosome, since it helps determining the sex of an individual. The female combination of the sex chromosome is XX while that for men is XY. In case of men, a deficient X chromosome does not have an alternative X chromosome to counter it as with women.

A woman can be a carrier of the deficient chromosome and may pass it on to her children, in spite of her not being a hemophilia patient. This had been the case of Queen Victoria who carried the deficient gene of hemophilia b, but did not suffer from sever symptoms herself. However, many of her grandchildren, who inherited the disorder turned out to be severe hemophiliacs. For hemophilia to surface in women both the parents have to be hemophiliacs for her to inherit two deficient X chromosomes. This is why female hemophilia is less frequent, though they can be carriers of the disorder.

It is much more common for women to be carriers of the affected gene, which they may pass to their children. Since the child would inherit one gene each from the parent, there are 50% chances of the affected gene being passed on to the child. It has been found that women who are carriers of the affected gene may experience excessive loss of blood during the menstrual cycle and may sometimes experience traumas that could be relatable to mild hemophilia. For this reason they are called symptomatic carriers. However, in spite of suffering from the same trauma that a mild hemophiliac man would, treatment of women is often neglected due the “carrier” tag attached.

Out of the many types of hemophilia that affect humans, acquired hemophilia affects men and women equally, unlike the other kinds of hemophilia. In fact, incidence of acquired hemophilia in pregnant women is more as compared to the general population.

Female hemophilia has been diagnosed, however rare the cases might be.  This will happen if both the parents are hemophiliacs and pass the affected gene to the child. It may also happen because of a new alternation in the genes. Along with the usual symptoms of hemophilia such as prolonged bleeding and spontaneous bleeds into the joints or soft tissues, women can have added complications, during the menstrual cycle or pregnancy. Since, the cases of female hemophilia are so uncommon, they are wrongly diagnosed and treated for diseases they are not affected with

Women with hemophilia have often complained of getting the wrong treatments and being treated for incorrect ailments. Female hemophilia has often been associated with other bleeding disorders and is many cases, goes undiagnosed. Unawareness among doctors and a common assumption of considering hemophilia as a male disease has led to such wrong diagnosis. It is necessary for doctors to be well aware of the disorder to diagnose hemophilia in women correctly.

More Articles