Genetic Diseases


A few words about Hemophilia

Hemophelia is a genetic disorder affecting the bloods ability to clot. Blood clotting is a necessary function of the body and occurs when blood turns from a liquid to a solid to stop bleeding. There are three specific types of haemophilia and each will result in prolonged bleeding. Small exterior cuts and abrasions are not a major issue for hemophiliacs but internal bleeding or bleeding into joints can cause serious health issues – even death. There is no cure for hemophilia, but treatments and self-care regimes are available which result in most patients being able to live active productive lives.

Signs and symptoms of Hemophilia

The symptoms of hemophilia will vary depending upon the patient’s blood clotting ability. If the patient has only a minor deficit in blood clotting factors they may only be at risk of bleeding after a trauma or surgery. People with a high deficit of clotting factors however are at risk of spontaneous or unexplained bleeding. Spontaneous bleeding can consist of symptoms like nosebleeds with no obvious cause, unexplained bruising or bleeding, blood in the urine or stools, joint swelling, tightness or pain caused by internal bleeding and of course prolonged bleeding after a cut, abrasion or injury.

Causes of Hemophilia

Hemophilia is a genetic disease passed to children by parents who carry the defective gene. This defective gene causes a deficiency in one of the 20 clotting factors we all have that combine to form the clotting process. Hemophilia A and Hemophilia B affect clotting factors VIII and IX respectively and are only passed by the mother almost exclusively to male children. The defective gene is attached to the mothers X chromosome that she passes to her son (most females affected by this defective gene are purely carriers and do not have hemophilia.). Men only pass the Y chromosome to their sons and so cannot pass hemophelia to their sons. Hemophilia C is also caused by a genetic deficit but both parents can pass it to children of both sexes by a different inheritance pattern than that of the other forms of hemophilia.

Hemophilia Treatment

Treatment differs depending upon the type and severity of the hemophilia. The treatment for mild hemophilia A is the administration by injection or nasal spray of a hormone, which stimulates the release of the patient’s own clotting factor. Hemophilia B or severe hemophilia A requires infusion(s) of donor human clotting factor or genetically engineered products. Hemophilia C sufferers will need plasma infusions. These treatments can also be used as preventative treatments.

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