Hemophilia Essay

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Hemophilia is an inherited disease which slows the blood clotting process due to missing or reduced clotting factor proteins. Although uncommon, it is possible for Hemophilia to be acquired if the body produces antibodies that attack clotting factors. Only 30% of Hemophilia cases are due to spontaneous mutations. Hemophilia is a rare disorder. Approximately 1 in 5000 males has Hemophilia. The disorder is much more common in males than females. It is estimated that over 400000 individuals worldwide (.006% of the world’s population) have Hemophilia (National Hemophilia Foundation). Individuals with Hemophilia do not lose blood at a faster rate than others but they do bleed for longer. Small cuts and bruises are not usually life threatening but any serious injury or invasive surgery has the potential to be life threatening because of this disorder. Hemophilia can also cause internal bleeding, which can cause organ or tissue damage. This can be life threatening as well. There are two types of Hemophilia. Hemophilia A is due to the individual producing low levels of clotting factor VIII while Hemophilia B is due to the individual producing low levels of clotting factor IX. Clotting factors are proteins which interact with platelets so that clots can be formed. Clotting factors allow the platelets to clump together to seal cuts and tears in blood vessels to prevent excessive bleeding. Hemophilia can be mild moderate or severe depending on the amount of clotting factor in the blood. Individuals with mild Hemophilia have 6% to 49% of the normal amount of clotting factor. Individuals with moderate hemophilia have 1% to 5%, while those with severe have less than 1% of the normal clotting factor (National Hemophilia Foundation). Indivi...

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...p bruises, joint pain and swelling caused by internal bleeding, unexplained and excessive bleeding or bruising, blood in your urine or stool, prolonged bleeding from cuts or injuries or after surgery or tooth extraction, nosebleeds without a known cause, tightness in your joints, unusual bleeding after immunizations, or excessive bleeding after surgery” (Mayo Clinic).
For mild hemophilia, treatment is often not required. Replacement therapy can be used to for moderate hemophilia. It requires the individual to blood infusions and can be done from at home. There is also Desmopressin which can be used for moderate Hemophilia which replenishes factor VIII proteins. Gene therapy is the newest and most promising treatment but is not safer than Desmopressin or replacement therapy. It’s usually a one-time treatment that transfers genes using viral or lysosome vectors.

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