Rosalyn Carson-DeWitt, MD
Hemophilia is a group of bleeding disorders. It is caused by low amounts of specific clotting factors. These factors help to stop bleeding.
The most common types of hemophilia are:
Hemophilia is caused by a faulty gene
located on the X chromosome.
Females carry 2 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.
Hemophilia mostly occurs in men. Your chances of hemophilia are also increased if you have a family member with hemophilia.
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.
Symptoms that can occur with hemophilia include:
You will be asked about your symptoms and medical history. A physical exam will be done.
Tests may include:
Talk with your doctor about the best treatment plan for you. Options include:
You'll be tested often to monitor your factor levels. When your factor levels drop too low, you may be given a dose. You may also be given a dose if you are bleeding or at high risk for bleeding, such as during surgery.
Blood factor concentrate may be given through an IV. The type of blood factor that you are given depends on the type of hemophilia you have.
People with hemophilia and their families can be taught to give 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 stored within the body on the lining of blood vessels.
and hepatitis Avaccines are important. There is an increased risk of exposure to hepatitis with frequent infusions of blood products.
The following steps may help prevent bleeding:
There are no current guidelines to prevent hemophilia. However, if you have a family history of hemophilia, genetic counselors can help you figure out what risk your potential offspring may have.
American Society of Hematology
National Hemophilia Foundation
Caring for Kids—Canadian Paediatric Society
Network of Rare Blood Disorder Organizations
What is hemophilia? National Heart, Lung, and Blood Institute website. Available at:
http://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia. Updated July 13, 2013. Accessed June 9, 2016.
Hemophilia A. EBSCO DynaMed Plus website. Available at:
http://www.dynamed.com/topics/dmp~AN~T115190/Hemophilia-A. Updated August 5, 2016. Accessed September 28, 2016.
Hemophilia B. EBSCO DynaMed Plus website. Available at:
http://www.dynamed.com/topics/dmp~AN~T113770/Hemophilia-B. Updated September 2, 2016. Accessed September 28, 2016.
10/24/2012 DynaMed's Systematic Literature Surveillance.
http://www.ebscohost.com/dynamed: 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.
4/24/2014 DynaMed Plus Systematic Literature Surveillance.
http://www.dynamed.com/topics/dmp~AN~T113770/Hemophilia-B: US Food and Drug Administration. FDA approves first long-acting recombinant coagulation Factor IX concentrate for patients with Hemophilia B. US Food and Drug Administration website. Available at: http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm391037.htm. Published March 28, 2014. Accessed June 9, 2016.
Last reviewed June 2016 by Michael Fucci, DO, FACC
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