What is hemophilia?

Hemophilia is a blood disorder affecting men in which one of the clotting factors is deficient. When the affected person bleeds the clotting mechanism reacts very slowly or is sometimes unable to clot. There are degrees of severity of the disease and this is directly linked to the levels of clotting factor in the blood.

The greater the level of the deficiency the more serious and life threatening the bleeds. 

When bleeds occur they are generally internal and common sites are joints such as the knees, ankles and elbows. Bleeding can also occur into organs and muscles although this is less common. Bleeds may also occur spontaneously and with no apparent cause, but more often are the result of trauma (injury).

One of the most famous hemophiliacs was Russian Prince Tsarevitch Alexei, killed along with all his family during the Russian revolution in 1917. The disease had been passed to him by his mother, a daughter of Queen Victoria.

There are two common types of hemophilia:

1. Hemophilia A. Known as classical hemophilia and the most common type it is caused by a deficiency or missing Factor V111.

2. Hemophilia B. Commonly known as Christmas disease, it is due to an abnormal or missing Factor IX. 

What causes Hemophilia?

Hemophilia is a hereditary disease passed on through females who carry the defective genes. The female carriers are often unaware that they have the defective genes as they are have no or only very mild symptoms of the disease themselves.

About one third of all cases appear in families with no known incidence of the disease.

There is a type of acquired hemophilia that is extremely rare - approximately 2 cases in one million per year. In one type those affected, usually the middle aged or elderly who have no history of any bleeding disorder, develop antibodies against Factor VIII (a clotting agent). Another extremely rare type of acquired hemophilia occurs in young women during a pregnancy or in the post partum period. This type usually disappears in twelve months and does not reoccur in subsequent pregnancies.   

Treatment for Hemophilia.

There is no cure at present for this disease although it is hoped that in the not too distant future gene therapy will become available. At present control of the disease relies on treatments aimed at controlling bleeds with Factor VIII or Factor IX, either once they have occurred, or prophylactically, by preventive administration of Factor VIII in daily doses.

Whilst life expectancy in developed countries is good people with hemophilia have shown that they are prone to blood-bourn viruses. Many people acquired HIV and Hepatitis C before the clotting agents were screened and a significant percentage who went on to acquire AIDS from the HIV virus are now, sadly, dead.

In developed countries genetic counseling is available to advise families, aware of the hereditary aspect of this disease, on future pregnancies. Support groups are available in many countries for those with hemophilia and their families. It is important for those who are diagnosed with hemophilia to receive specialist medical and support services whenever possible.