Christmas disease
Christmas disease (pronounced: /ˈkrɪsməs diːziːz/), also known as Hemophilia B, is a rare genetic disorder that affects the body's ability to clot blood. The disease was first identified in 1952 by a British doctor named R.G. Macfarlane, who named it after his patient, Stephen Christmas.
Etymology
The term "Christmas disease" is derived from the name of the first patient diagnosed with the condition, Stephen Christmas. The term "hemophilia" is derived from the Greek words haima (blood) and philia (love), indicating an abnormal affinity for bleeding.
Symptoms
The symptoms of Christmas disease are similar to those of Hemophilia A, and include prolonged bleeding, easy bruising, and an increased risk of bleeding inside joints or the brain.
Causes
Christmas disease is caused by a mutation in the Factor IX gene, which is responsible for producing a protein that plays a crucial role in blood clotting. This mutation is inherited in an X-linked recessive manner, meaning it primarily affects males.
Diagnosis
Diagnosis of Christmas disease involves blood tests to measure the level of clotting factors in the blood. Genetic testing may also be used to identify the specific mutation causing the disease.
Treatment
Treatment for Christmas disease typically involves replacing the missing or deficient Factor IX through infusions of Factor IX concentrate. In some cases, gene therapy may be used to correct the genetic mutation causing the disease.
See also
External links
- Medical encyclopedia article on Christmas disease
- Wikipedia's article - Christmas disease
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