Blæðissjúkdómur

Blæðissjúkdómur, commonly known as hemophilia in English, is a group of inherited bleeding disorders in which the blood does not clot properly. This can lead to spontaneous bleeding as well as bleeding following injuries or surgery. There are different types of hemophilia, with hemophilia A being the most common. Hemophilia A is caused by a deficiency in clotting factor VIII, while hemophilia B is caused by a deficiency in clotting factor IX. Both are X-linked recessive disorders, meaning they primarily affect males.

The severity of hemophilia can vary greatly among individuals. Mild hemophilia may only be diagnosed after significant bleeding occurs following surgery or trauma. Moderate hemophilia can lead to more frequent bleeding episodes, often into joints and muscles. Severe hemophilia can cause spontaneous bleeding into joints and muscles without any apparent cause, and can also lead to serious internal bleeding.

Symptoms of hemophilia can include easy bruising, prolonged bleeding from cuts, excessive bleeding after dental work or surgery, spontaneous bleeding into joints causing pain and swelling, and bleeding into soft tissues. In severe cases, bleeding in the brain can be life-threatening.

Diagnosis is typically made through blood tests that measure the levels of clotting factors. Treatment for hemophilia involves replacing the missing clotting factor. This can be done on demand when bleeding occurs, or prophylactically to prevent bleeding episodes. Advances in treatment have significantly improved the quality of life for individuals with hemophilia, allowing them to lead more active and fulfilling lives. Genetic counseling is important for families with a history of hemophilia.