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Haemophilia B, also spelled hemophilia B, is a blood clotting disorder causing easy bruising and bleeding due to an inherited mutation of the gene for factor IX, and resulting in a deficiency of factor IX. It is less common than factor VIII deficiency (haemophilia A). [3]
Haemophilia frequency is about 1 instance in every 10,000 births (or 1 in 5,000 male births) for haemophilia A and 1 in 50,000 births for haemophilia B. [58] About 18,000 people in the United States have haemophilia. Each year in the US, about 400 babies are born with the disorder. Haemophilia usually occurs in males and less often in females. [59]
The presence of haemophilia B within the European royal families was well-known, with the condition once popularly known as "the royal disease". The sex-linked X chromosome bleeding disorder manifests almost exclusively in males, even though the genetic mutation causing the disorder is located on the X chromosome and can be inherited from the ...
Deficiency of this protein causes haemophilia B. It was discovered in 1952 after a young boy named Stephen Christmas was found to be lacking this exact factor, leading to haemophilia. [5] Coagulation factor IX is on the World Health Organization's List of Essential Medicines. [6]
Hemophilia B is a genetic bleeding disorder resulting from missing or insufficient levels of blood clotting Factor IX, a protein needed to produce blood clots to stop bleeding. [7] The most common adverse reactions include liver enzyme elevations, headache, mild infusion-related reactions and flu-like symptoms. [7] [8]
He discovered and named Christmas disease, more commonly referred to as haemophilia B, a deficiency of coagulation Factor IX. [citation needed] [3] [6] Sir Dacie is credited with characterizing the relationship between paroxysmal nocturnal hemoglobinuria and bone marrow failure syndromes like aplastic anemia. [7]
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