Christmas Disease

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added:
3 months ago

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141

specialty:
Pathology

Case description

Christmas Disease (Hemophilia B), also known as factor IX hemophilia, is a rare genetic disorder in which your blood does not clot properly. It’s sometimes also called Christmas disease, named after Stephen Christmas, the first person diagnosed with the condition in 1952.If you have hemophilia B, your body produces little or no factor IX, a protein that helps the blood to clot. This leads to prolonged or spontaneous bleeding. The less factor IX your body produces, the worse your symptoms are. Without treatment, hemophilia B can be fatal.A person is born with hemophilia B, but it may not be diagnosed until later in life. It’s estimated that two-thirds of cases are inherited, according to the National Hemophilia Foundation.The other cases are caused by spontaneous gene mutations that occur for unknown reasons during fetal development. The disease occurs almost exclusively in people assigned male at birth.

tags: pathology internal medicine DISEASES christmas disease National Hemophilia Foundation fetal development medical case