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WHAT IS HEMOPHILIA?

Hemophilia is a disorder caused by an error in a person’s genetic code.

This special genetic code, passed to an unborn child, is supposed to signal a series of steps that help control bleeding by clotting. The steps needed to form a clot depend upon a series of proteins called factors. This error in genetic code means that some of the factors are missing or that they are not working correctly in a person with hemophilia. This causes people with hemophilia to bleed longer but not faster. Surface bleeds, on the outside of the body, are fairly easy to stop, even for people with hemophilia. Internal bleeding, such as bleeding into joints or muscles, can mean that it is only possible for a clot to form after the person has taken medication called clotting factor.

More than 15,000 people have hemophilia A or hemophilia B in the United States. There are other bleeding disorders where one or more of the clotting factors is missing. People with hemophilia A are missing factor VIII and those with hemophilia B are missing factor IX, others may be missing factors I, II, VII, etc. 

There are also other bleeding disorders. The most common of which is von Willebrand disease, and many more people have von Willebrand disease than have hemophilia. Individuals with bleeding disorders can be missing a little, a lot, or almost all of that particular factor needed to form clots and stop bleeding. These are called mild, moderate, and severe levels of  disorder. The level of severity will predict how often a person will develop a bleed, how difficult it will be for them to form a clot, and how much clotting medication they will need in order to form a clot.

The gene, or genetic error, for hemophilia is carried by females to both boy and girl children. As a carrier of hemophilia, a woman may have symptoms of hemophilia herself.  She may need factor replacement therapy at times during her lifetime. She may suffer excessive menstrual bleeding, frequent nosebleeds, easy bruising, bleeding during surgery, dental work, and childbirth. It is wise for a woman who is a carrier, to ask her doctor for a diagnostic test to determine her level of severity and when she may need for treatment to remain well.

As a carrier of hemophilia, a woman is at risk of having children who have hemophilia or who are carriers. Each child that is born to a woman who is a carrier, can inherit one of four possible genetic codes that relate to hemophilia.  Most commonly, a girl born to a woman who is a carrier is at risk of being a carrier.  A boy born to a woman who is a carrier is at risk of having hemophilia.   So, lets see how this works.

First we need to understand that the father's sperm determines the gender (male or female) of the unborn baby.  With each pregnancy a woman, who is a carrier, has an equal chance of creating a baby boy or girl, as determined by the gender selection of the sperm.  If a boy is conceived, he has a 50% chance of being born with hemophilia. If a girl is conceived, she has a 50% of being a carrier of hemophilia. That means that each pregnancy presents 50% risk of that child being born with hemophilia or with a carrier.  On rare occasions a woman carrier may pass hemophilia to a daughter. Men with hemophilia, however, will pass the genetic coding error to all of their daughters, 100% of whom will be carriers.

Hemophilia is a life-long disorder. Those with mild or moderate hemophilia may need factor replacement treatment very rarely. Those with severe factor VIII or IX deficiency, may need treatments more than once per week, for their entire lives, to stop bleeds. Without treatment or with delays in treatment, people with hemophilia will suffer tremendous pain, swelling, joint damage, and possible joint destruction from bleeds. Clotting factor needs to be accessible immediately and in sufficient quantities to ensure that bleeds are stopped quickly and completely.

The medications used to stop bleeding are called clotting factor replacements. These medications are injected or infused into the person’s body through a needle. These medications put back the missing factor(s) so that the person can form a normal clot. Often these medications are used to prevent bleeding from occurring in the first place. This preventive treatment is called prophylaxis. A person on prophylaxis will infuse medications on a regular schedule, often two to three times per week, helping the body clot and deal with trauma just like a person without hemophilia or von Willebrand. To remain healthy, people with hemophilia, von Willebrand, and other bleeding disorders must have their medications available when and where they need them.

Many families use health centers, called hemophilia treatment centers (HTC), to get care for their bleeding disorder. These centers have developed the expertise needed to understand bleeding disorders. The medical staff of an HTC includes doctors and nurses with special training in hemophilia-related conditions. Often the HTC team includes an hematologist, orthopedist, nurse, geneticist, physical therapist, social worker, health educator, with referrals to dentists, OBGYNs, and other specialists that are routinely needed by clients with bleeding disorders.

In addition to receiving healthcare services at an HTC, clients often go to the HTC or local emergency room to get their medications and have those medications injected intravenously. There are also many families who have learned to infuse these medications themselves. Similar to people with diabetes, many children and adults with bleeding disorders have become more self-reliant by learning how to inject themselves with their medications in their own homes. Home treatment has helped people treat bleeds immediately without waiting. Individuals and families have become more independent, have been less burdened with travel to the hospital and waiting at ERs, and have decreased their medical care costs. A home infusion or home treatment program, can be chosen by a family with hemophilia, in concert with their hemophilia doctor. This is where AHF comes in.

The quality of life for families living with bleeding disorders has improved so much in the past thirty years. Medications are available and purification has made these medications safer and safer. Recombinant medications, made from non-human sources, are in good supply and need to be among the choices given to every family. Prophylactic treatment has helped prevent bleeding and made a nearly normal life possible for all. The children born today with hemophilia and related bleeding disorders may be able to live without the surgeries and wheelchairs used by their grandfathers. We at AHF are happy to be part of this optimistic new world.

However, there remain many complications. Medications are still being made from human plasma and still carry a risk of transmitting other diseases, like hepatitis. People with bleeding disorders still suffer from joint damage and joint disease.  Some people with hemophilia suffer from liver diseases or HIV disease. All people with bleeding disorders are completely dependent upon daily, weekly, or at least regular treatment with very expensive medications that must be injected.

For this reason AHF is a generous supporter of research to find a cure for hemophilia and related bleeding disorders. We join thousands across the country in support of the work of the national organization involved in that effort, the National Hemophilia Foundation (NHF). Our support efforts include Bear With Us...please be a part of finding a cure for bleeding disorders.

The above information on hemophilia and related inherited bleeding disorders is based upon a pamphlet from NHF entitled "What You Should Know About Bleeding Disorders." 

Setting the Standard of Homecare for the Bleeding Disorders Community