CHRISTMAS DISEASE

Christmas disease, also called hemophilia B or factor IX hemophilia, is a rare genetic disorder in which your blood doesn’t clot properly. The disease is named for Stephen Christmas, who was the first person diagnosed with the condition in 1952.

 A person is born with Christmas disease, but it may not be diagnosed until later in life. It’s estimated that two-thirds of cases are inherited. The other cases are caused by spontaneous gene mutations that occur for unknown reasons during fetal development. The disease almost exclusively in males. The gene responsible for Christmas disease is carried on the X chromosome. Females have two X chromosomes and males have one X and one Y chromosome. If a male inherits the faulty gene on his X chromosome, he could develop Christmas disease. If a female inherits the faulty gene on one of her X chromosomes, she’ll be a carrier for Christmas disease and may pass the defective gene on to her children. Genetic testing is a very accurate way to detect the faulty gene. Events that may lead your doctor to suspect Christmas disease include: prolonged bleeding, unexplained, excessive bruising or prolonged nosebleeds, unexplained blood in the urine or feces caused by internal bleeding in the gastrointestinal or urinary tract, internal bleeding that pools in the joints, which causes pain and swelling. There’s no cure for Christmas disease, but there are treatments for the condition. Regular treatment is essential for managing the symptoms of Christmas disease. Christmas disease can be treated with factor IX injections to prevent or stop bleeding. The factor IX can be derived from donated human blood or made in a laboratory

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Editorial assistant,

Journal of Biochemistry and Physiology,

Biochemistry@molecularbiol.com