Hemophilia B is also known as Christmas disease. It is named after the first person to be diagnosed with the disorder in 1952, Stephen Christmas. As the second most common type of hemophilia, it occurs in about 1 in 25,000 male births and affects about 4,000 individuals in the United States.
What is Christmas disease?
Hemophilia B, also known as factor IX deficiency or Christmas disease, is the second most common type of hemophilia. The disorder was first reported in the medical literature in 1952 in a patient with the name of Stephen Christmas.
Can Christmas disease be cured?
With treatment, most people with Christmas disease are likely to lead normal lives. Since there's no cure for the disease, it's important to make sure you avoid situations in which excess bleeding could occur. You also can receive blood-clotting therapy before any surgery or after any injury.
How is hemophilia B caused?
Hemophilia B is caused by an inherited X-linked recessive trait, with the defective gene located on the X chromosome. Females have two copies of the X chromosome. If the factor IX gene on one chromosome does not work, the gene on the other chromosome can do the job of making enough factor IX.6 feb 2020
How did hemophilia get its name?
The term hemophilia comes from a student of Zurich University, Friedrich Hopff and his professor, Dr. Schonlein, who came up with the term “haemorrhaphilia” which became “haemophilia” in 1828. Argentinian physician, Alfredo Pavlovsky discovered there were two types of hemophilia (A and B) in 1947.12 dic 2017
How was haemophilia discovered?
In 1803, John Conrad Otto, a Philadelphia physician, was the first to publish an article recognizing that a hemorrhagic bleeding disorder primarily affected men, and ran in certain families. He traced the disease back to a female ancestor living in Plymouth, New Hampshire, in 1720.
Who first discovered haemophilia?
John Conrad Otto recognized a bleeding condition was hereditary and affected males. He traced it back to a woman who settled near Plymouth, New Hampshire in 1720. 1828 – The word “Hemophilia” is first used to describe a bleeding disorder condition at the University of Zurich.
What is the scientific name for hemophilia?
Hemophilia A, also called factor VIII (8) deficiency or classic hemophilia, is a genetic disorder caused by missing or defective factor VIII (FVIII), a clotting protein.
When was Christmas disease discovered?
Christmas Disease was first described in an issue of the British Medical Journal on Dec 27, 1952. Successful gene therapy for Christmas Disease was reported fifty-five years later on Dec 6, 2017 in the New England Journal of Medicine.24 dic 2017
Who discovered Christmas disease?
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 disease is named for Stephen Christmas, who was the first person diagnosed with the condition in 1952.
Why is Factor 9 called Christmas factor?
The clotting factor IX is also known as Christmas factor. The name is derived from the boy, Stephen Christmas. He was lacking this factor and the deficiency led him to acquire hemophilia.1 mar 2021