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A day to raise awareness about bleeding disorders occurs next week: April 17, 2015 is World Hemophilia Day. Approximately 75 percent of people with bleeding disorders receive no treatment (or inadequate treatment). 1
The World Federation of Hemophilia (WFH), an international not-for-profit organization, improves and sustains care for people with inherited bleeding disorders around the world. Their vision is “Treatment for All” — that one day all people with a bleeding disorder, wherever they live, will have proper care.
What is hemophilia? Hemophilia is a bleeding disorder. Hemophiliacs can bleed for a long time because their blood does not have enough clotting factor — a protein in blood that controls bleeding. Hemophilia is rare genetic disorder, affecting mostly males. This is due to the fact that the defective gene that causes the disorder is located on the X chromosome, of which men only get one copy; approximately 1 in 10,000 people are born with it. 2 There are two types of hemophilia. Hemophilia A (characterized by not having enough clotting factor VIII) is the most common; hemophilia B (characterized by not having enough clotting factor IX) is less common.
How do you get hemophilia? Hemophilia is usually inherited from your parents (this occurs in 70 percent of people who suffer from it). However, sometimes “sporadic hemophilia” can occur caused by a change (mutation) in your own genes (this occurs in 30 percent of sufferers). 3
Do only men get hemophilia? For many years, it was believed that only men could have symptoms of hemophilia — that women who carry the hemophilia gene don’t experience symptoms. However, we now know that many female carriers experience symptoms of hemophilia. A woman who inherits two copies of the defective gene on each of her X chromosomes (one from her mother and one from her father) would also have hemophilia, but this is exceedingly rare.
What are hemophilia symptoms? The National Institutes of Health National Heart, Lung and Blood Institute 4 says that the major signs and symptoms of hemophilia are excessive bleeding and easy bruising. Bleeding can occur anywhere: externally, internally, in the joints, or in the brain. Bleeding on the surface of the body is external bleeding and bleeding inside the body is internal bleeding. External bleeding is characterized by: bleeding in the mouth from cutting or losing a tooth or having dental work, nosebleeds for no obvious reason, heavy bleeding from a minor cut, and bleeding from a cut that resumes after stopping for a short time. Internal bleeding is characterized by, depending on the site of the bleed, sudden, horrendously painful headache, confusion, weakness, shortness of breath, lightheadedness blood in the urine or stool, or large bruises.
How is hemophilia diagnosed? Hemophilia is diagnosed using a blood sample. Hemophilia A is diagnosed by testing the level of factor VIII activity. Hemophilia B is diagnosed by measuring the level of factor IX activity. If a mother is a known carrier of hemophilia, testing can be done before a baby is born.
What treatments are available for hemophilia? Today, treatment is very effective. The missing clotting factor is injected into the bloodstream using a needle, and the bleeding stops because the clotting factor is now available for the body to use in the coagulation cascade. With treatment and proper care available, people with hemophilia can live perfectly healthy lives.
Bleeding disorders such as hemophilia result when the blood lacks certain clotting factors due to a genetic mutation. However, too much clotting (i.e., blood clots) can lead to heart attacks, strokes or respiratory failure. In patients who develop many clots, such as deep vein thrombosis or pulmonary embolism, anticoagulants (“blood thinners”) are often prescribed to keep blood from clotting — for example, aspirin or Warfarin.
Some newer anticoagulants are now available as well. These novel oral anticoagulants include Pradaxa, Xarelto and Eliquis. Both Pradaxa and Xarelto carry increased risks of hemorrhaging and uncontrollable bleeding, in addition to wound complications following total hip or knee surgery that have been cause for concern and multiple lawsuits.
Here are some things you can do to help increase awareness, according to the WHF:
Spread the word with social media:
What Are the Signs and Symptoms of Hemophilia? http://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia/signs. Accessed March 2, 2015. ↩