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Hemophilia

 

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Hemophilia is a genetic disorder due to the absence of the anti-haemophilic factor. Hemophilia or hemophilia is the name of any of several hereditary genetic illnesses that impair the body's ability to control bleeding. Persons with hemophilia may bleed for a longer time than others after an injury or accident. They also may bleed internally, especially in the joints (knees, ankles, and elbows). Clotting is the process by which your blood changes from a liquid to a solid state in order to stop bleeding. Currently, about 17,000 people in the United States have hemophilia. It's a genetic disorder, which means it's the result of a change in genes that's either inherited (passed on from parent to child) or that happens during development in the womb. Types of this condition include hemophilia A (also known as classic hemophilia) and hemophilia B (also known as Christmas disease). The two types are caused by mutations in different genes. Hemophilia is an hereditary condition. This means that it is passed on from mother to child at the time of birth. People with hemophilia do not bleed faster than other people, and will not bleed to death from a minor cut or injury. The main problem for people with hemophilia is bleeding internally, mainly into muscles and joints.

Hemophilia is a disorder of your blood-clotting system. If you have hemophilia and you have a cut, you'll bleed for a longer time than if your blood clotted normally. About one in every 8,000 boys is born with hemophilia; girls are more rarely affected by this genetic condition linked to gender.Genetic deficiencies (or, very rarely, an autoimmune disorder ) cause lowered plasma clotting factor activity so as to compromise blood-clotting; when a blood vessel is injured, a scab will not form and the vessel can continue to bleed excessively for a very long period of time. Far more important is internal bleeding (hemorrhaging). These hemorrhages are in joints, especially knees, ankles and elbows; and into tissues and muscles. Someone that produces 2% to 5% has a moderate case, and someone that produces 6% to 50% of the affected factor level is considered to have a mild case of hemophilia. In general, a person with milder hemophilia may only bleed excessively once in a while, whereas severe hemophilia puts someone at risk for having bleeding problems much more often. It might therefore present visibly as skin bruises, or subtly as melena , hematuria , or bleeding in the brain. But with proper treatment and self-care, most people with hemophilia can have an active, productive lifestyle.

Causes of Hemophilia

The common Causes of Hemophilia :

  • Males with hemophilia do not pass the gene to their sons; however, they do pass the gene to their daughters
  • This second most common type is caused by lack of enough clotting factor IX.
  • These proteins prevent formation of clots.
  • While females carry the trait, they very rarely exhibit any symptoms of the disorder.
  • Hemophilia A is caused by an inherited or acquired genetic mutation or an acquired factor VIII inhibitor.
  • Females who inherit the defective gene will become carriers who may, in turn, have a 50 percent chance of passing it on to their children.
  • There is one gene for making clotting factor I, one gene for clotting factor II, one gene for clotting factor III, and so on.

Symptoms of Hemophilia

Some are common Symptoms of Hemophilia :

  • Excessive bleeding from biting a lip or having a tooth pulled .
  • painful or swollen joints.
  • Spontaneous bleeding.
  • Joint pain and swelling caused by internal bleeding.
  • Unexplained bleeding or bruising.
  • Gastrointestinal tract and urinary tract hemorrhage.
  • Blood in your urine or stool.
  • Prolonged bleeding from cuts or injuries, or after surgery or tooth extraction .
  • Nosebleeds with no obvious cause.
  • Bruising.
  • Bleeding into joints and associated pain and swelling.

Treatment of Hemophilia

  • Treatment may involve slow injection of the hormone desmopressin (DDAVP) by your doctor into one of your veins to stimulate a release of more of your own clotting factor to stop the bleeding.
  • You'll need plasma infusions to stop bleeding episodes.
  • Apply aggressive hemostatic techniques.
  • Assist patients capable of self-administered factor therapy.
  • All surgical or invasive procedures should be done in a hospital to properly handle bleeding.
  • You will need to learn to recognize signs and symptoms of bleeding so that you can get treatment as quickly as possible.
  • Include a diagnostic workup for hemorrhage
  • You usually need long-term or shorter term preventive therapy to prevent bleeding that could cause permanent damage to your joints, muscles, or other parts of the body.