Hemophilia is a recessive genetic disorder linked to the X-chromosome. The condition develops due to the deficiency of one of the three clotting factors, that are clotting factor 8, 9, or 11. The blood does not clot properly and therefore any injuries that result in a cut may lead to death due to bleeding. It has been called the royal disease because it suddenly showed up as a genetic mutation in Queen Victoria (1819-1901) of Britain. She was a carrier and passed it on to her eighth son Leopold and thus to her descendants and many other royal families of Europe.
What is Hemophilia?
Hemophilia is a rare blood disorder that is linked to the X-chromosome. The X and Y chromosomes are the genetic material that determines the gender of the child. Women have two X chromosomes and men have a set of X and Y chromosomes. The X chromosome carries the gene which have the information for the clotting factors.
Therefore, women are only carriers of this blood disorder, and they pass it on to their sons. 50% of the children of a couple where a woman is a carrier and a man is not afflicted with the disease will either get the disease (sons) or become carriers of the disease (daughters). In case where the man is afflicted with the disease, the girls will be carriers, but his sons will not get the disease. However, this happens very rarely as a male is not able to survive till maturity.
There are two types of hemophilia, A and B. The former (also called factor VIII deficiency and classic hemophilia) is the more common of the two. This disease is caused due to lack of a certain protein that is necessary for the production of a major component in the clotting process known as factor VIII. With this disease small cuts or bruises are not a problem. Though the major problems are caused by traumatic injuries that lead to continuous bleeding.
Hemophilia B, also known as "Christmas disease" (named after the first person diagnosed with it in 1952) or factor IX deficiency, is caused due to deficiency of blood clotting factor IX. This condition is the second most prevalent type of hemophilia. In about 30% of the cases, the condition id not inherited and is caused due to spontaneous mutation.
The most common symptom is bleeding and bruising. There are various degrees of bleding which are explained below.
Mild hemophilia (factor levels of 6%-49%)
These patients experience significant bleeding only after major injury or other causes of bleeding such as trauma or surgery. Often this degree of hemophilia will not be found until an injury causes excessive bleeding (sometimes not even until adulthood).
People affected with this condition often bruise easily. A knock or a fall causes them to bleed around the joints. The commonly affected joints are elbow and knee joint. Initially the person may feel tightness in the joint, but later on the joint may become swollen and hard to bend. Also, the pain increases which may disrupt the movement of the joint temporarily.
These people bleed spontaneously frequently and frequently. They bleed without any apparent reason, and the bleeding may take the form of nosebleed, joint bleed, muscle bleed, etc.
In America there are specialized hemophilia treatment centers (HTC's) that have specialists that cover a multitude of concerns that would be able to assist people with this and other blood disorders. The people working in this center are social workers, hematologists (both adult and pediatric), dentists, gynecologists, and several others.
For those with mild hemophilia, small cuts and scrapes are treated normally. Additionally, a non-blood product is added (DDAVP) to treat minor bleeding incidents. Major bleeding incidents or bleeding into the joints and muscles are treated by giving the patient the missing factor (VIII or IX). This is the only way to solve these problems.
For major bleeding injuries, The Medical and Scientific Advisory Council of the National Hemophilia Foundation has recommended usage of recombinant blood products. These are blood factors made with products that are produced in a lab as opposed to donated blood products. These products are recommended because they tend to be safer, and the chance of getting AIDS is greatly diminished since transfusion of donated blood products has been known to cause AIDS. It is recommended that people affected with severe hemophilia (both A and B) should be administered regular preventive doses of the missing factors.
In rare circumstances (more with hemophilia A, than with B) there is a possibility of adverse reactions (either allergic reactions or resistance to the standard treatment factor). In such cases it is important to inform your doctor or health treatment center (HTC).