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What is Hemophilia?

Hemophilia is group of hereditary bleeding disorders of specific blood clotting factors. There are two main types of hemophilia: A and B.

What causes Hemophilia?

Hemophilia is caused by an inherited sex-linked recessive trait. The defective gene is located on the X chromosome.

The severity of symptoms can vary with this disease, and the severe forms become apparent early on. Bleeding is the hallmark of the hemophilia and typically occurs if an infant is circumcised. Additional bleeding manifestations make their appearance when the infant becomes mobile. Mild cases of hemophilia may go unnoticed until later in life when try occur in response to surgery or trauma. Internal bleeding may happen anywhere, and bleeding into joints is common. Risk factors are a family history of bleeding and being male.

What are the Symptoms of Hemophilia?

The most common symptoms of hemophilia are: bruising, spontaneous bleeding, bleeding into joints and associated pain and swelling, gastrointestinal tract and urinary tract hemorrhage, blood in the urine or stool, excessive and prolonged bleeding from cuts, tooth extraction, surgery bruises that are unusual in location or number, nosebleeds that won't stop, and painful or swollen joints.

How is Hemophilia Diagnosed?

Doctors diagnose hemophilia by performing a set of blood tests. Coagulation studies involving many tests are performed if the person tested is the first one in the family to have a bleeding disorder. Once the hemophilia has been identified, other family members will need less testing to see if they also have it.

Medical Complications of Hemophilia

Some of the medical consequences from hemophilia are: Chronic joint deformities, and Intracerebral hemorrhage.

Can Hemophilia be Cured?

Currently, there is no cure for hemophilia. However, it can be managed with medications, such as: clotting factor replacement therapy.

Statistics

  • Hemophilia A occurs in 1 out of 10,000 men in the United States.

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