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Hemophilia

Hemophilia is a rare inherited bleeding disorder in which the blood does not clot normally. 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. Human blood contains special proteins, known as clotting factors. Identified by Roman numerals, clotting factors help stop bleeding and allow a blood vessel to heal after an injury. All types can cause prolonged bleeding. If you have hemophilia and you have a cut, you'll bleed for a longer time than if your blood clotted normally. Hemophilia A also known as factor VIII deficiency is the cause of about 80% of cases. Hemophilia B , which makes up the majority of the remaining 20% of cases is a deficiency of factor IX. Patients are classified as mild, moderate, or severe, based on the amount of factor present in the blood. Each case of hemophilia is unique. About 18,000 Americans have hemophilia. It's a lifelong disease. But with proper treatment and self-care, most people with hemophilia can have an active, productive lifestyle.

Hemophilia is an X-linked recessive disorder characterized by the inability to properly form blood clots. Hemophilia occurs more commonly in males than in females. The two types are caused by mutations in different genes. Types of this condition include hemophilia A (also known as classic hemophilia) and hemophilia B (also known as Christmas disease). 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. Most people with hemophilia discover they have the condition when they are babies or young kids. 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. People with the condition often experience prolonged bleeding following injury or surgery and, in severe cases, spontaneous bleeding into joints and muscles.

Causes of Hemophilia

The common Causes of Hemophilia :

  • Hemophilia A is caused by an inherited or acquired genetic mutation or an acquired factor VIII inhibitor.
  • It can be caused by congenital defects, or birth defects (problems in a baby's growth and development before birth).
  • It can be inherited (passed from parent to child through genes).
  • It often results because important things (such as proteins) are missing from the blood to help it clot.

Symptoms of Hemophilia

Some Symptoms of Hemophilia :

  • Blood in the urine or stool .
  • Tightness in your joints.
  • Gastrointestinal tract and urinary tract hemorrhage.
  • Spontaneous bleeding.
  • Many large or deep bruises.
  • Bruising.
  • Prolonged bleeding from cuts, tooth extraction, and surgery.
  • Bleeding into joints and associated pain and swelling .
  • Nosebleeds with no obvious cause.

Treatment of Hemophilia

  • Avoid aspirin and anti-inflammatory agents such as ibuprofen (Advil) because they may further interfere with blood clotting.
  • Doctors can test unborn babies to see if they might have hemophilia.
  • Your child may need blood tests.
  • Patients may need physical therapy if they have joint damage.
  • Baby boys may be diagnosed after circumcision if parents notice a lot of bleeding.
  • The doctor can use other people's blood products to put in your child's blood. If your child is old enough, he may be able to learn how to do it himself.
  • Patients may need to have blood products (like plasma) added to their blood. This will help stop bleeding.
  • If your child gets a minor cut, cover the area with a bandage and add pressure. For bruises, use an ice pack. Your doctor can give you other specific recommendations.

 


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