Hemophilia is an inherited bleeding disorder. People who have hemophilia are missing one of several clotting factors (proteins in the blood that control and stop bleeding) that are necessary for the blood to clot properly. There are several different types of hemophilia, with the most common being Hemophilia A, Hemophilia B, and Von Willebrand Disease. Around 1 in 5000 males born in the US has Hemophilia A, with 1/3 of these cases resulting from gene mutation (meaning there is not a family history of the disease). Hemophilia A patients have disease that ranges in severity depending on how much of the “missing” clotting factor is present. Cases of Hemophilia A may be classified as mild, moderate, or severe. Hemophilia B is less common than Hemophilia A but is the second most common type of Hemophilia. Around 1 in 25,000 male births in the US will be diagnosed with Hemophilia B, and 1/3 of these do not have family history (the disease is a result of a mutation). Hemophilia B is also classified as mild, moderate, or severe depending on level of “missing” clotting factor. Von Willebrand disease occurs when a patient does not have enough Von Willebrand Factor, an important part of clot formation that holds platelets together, or has Von Willebrand Factor that is abnormal and does not function properly. 1-2% of the population is affected with Von Willebrand disease, and there are multiple stages used to describe its severity.
People with hemophilia do not bleed more quickly or a larger amount, but they bleed longer since their blood cannot clot like it is supposed to. The main threat to the health of a hemophiliac is uncontrolled bleeding that results from an injury or starts on its own. Those with severe hemophilia are in the most danger from this type of bleed, but all hemophilia patients can be in situations in which they are at risk (like when they have surgery). Sometimes internal bleeding occurs and blood goes into joints and muscles, causing pain, damage, and even death. Though hemophilia can occur spontaneously (not inherited from a parent), it is not contagious and cannot be spread to others except from parent to child.
Signs and Symptoms of Hemophilia
Some patients know that they have hemophilia because it is more severe or because it was inherited from family. Other patients may not know they have hemophilia until they have an abnormal episode and blood tests are done. Examples of situations that may lead to diagnosis of hemophilia:
- Bleeding that occurs suddenly without a clear cause
- Bleeding that continues for longer than normal after a cut, medical procedure, or accident; abnormal menstrual bleeding for women
- Bleeding into muscles and joints (especially knees, ankles, and elbows)
- Large areas of bruising
Treatment of Hemophilia
Hemophilia is treated by replacing the missing clotting factor(s) with a drug product containing that factor/those factors. Treatment works well in managing the disease, but there is not a cure for hemophilia. Without treatment, many hemophiliacs may die at a young age, especially in severe cases, but with treatment, hemophiliacs can live relatively normally and into adulthood.
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