Hemophilia is caused by a faulty gene
located on the X chromosome.
Females carry two copies of the X chromosome. If the faulty gene is only on one X, the normal gene on the second X will take over. As a result, they will not get the disease. Instead, they are carriers of the gene. The risk for their male offspring to inherit the gene is 1 in 2 or 50%. The chance that their female offspring will inherit the gene is also 50%. These
female offspring will be carriers like their mothers.
It is possible for a female to have hemophilia. For this to happen she must inherit the faulty gene from both her mother and her father.
Males carry only one X chromosome. If they get the faulty gene, the disease will develop.
It is possible for a new genetic mutation to occur. This means a person can get hemophilia even if neither parent carries a genetic mutation.
Symptoms may vary depending on the severity of the disease. Bleeding is the main symptom, which is often brought on by injury or surgery. Hemophilia may go unnoticed until the infant becomes mobile. In severe cases, bruising occurs easily, and spontaneous bleeding into joints can cause joint pain. Symptoms in mild versions of hemophilia may not appear until later in life.
Talk with your doctor about the best treatment plan for you. Options include:
Blood Factor Concentrate
You'll be tested often to monitor your factor levels. When your factor levels drop too low, you'll be given a dose. Blood factor concentrate may be given through an IV.
People with hemophilia and their families can be taught to administer blood factor concentrate at home at the first signs of bleeding. This can help prevent a crisis. People with severe forms of the disease may need regular infusions.
Some patients develop an inhibitor to a particular factor. This may require treatment with other clotting factors.
Mild hemophilia A may be treated with an infusion of medication. This infusion causes the release of blood factor concentrate. The factor is stored within the body on the lining of blood vessels.
Explore hemophilia. National Heart, Lung, and Blood Institute website. Available at: ...(Click grey area to select URL) Updated July 1, 2011. Accessed June 25, 2013.
Hemophilia A. EBSCO DynaMed website. Available at: ...(Click grey area to select URL) Updated May 10, 2013. Accessed June 25, 2013.
Hemophilia B. EBSCO DynaMed website. Available at: ...(Click grey area to select URL) Updated May 10, 2013. Accessed June 25, 2013.
10/24/2012 DynaMed's Systematic Literature Surveillance. ...(Click grey area to select URL) Broderick CR, Herbert RD, et al. Association between physical activity and risk of bleeding in children with hemophilia. JAMA. 2012 Oct 10;308(14):1452-9.