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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 A affects about 1 in 5,000–10,000, while haemophilia B affects about 1 in 40,000 males at birth. [2] [5] As haemophilia A and B are both X-linked recessive disorders, females are rarely severely affected. [8] Some females with a nonfunctional gene on one of the X chromosomes may be mildly symptomatic. [8]
Etranacogene dezaparvovec, sold under the brand name Hemgenix is a gene therapy used for the treatment of hemophilia B. [5] [6] [7] Etranacogene dezaparvovec is an adeno-associated virus vector-based gene therapy which consists of a viral vector carrying a gene for clotting Factor IX. [7]
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 ...
Factors VII, IX, and X all play key roles in blood coagulation and also share a common domain architecture. [10] The factor IX protein is composed of four protein domains: the Gla domain, two tandem copies of the EGF domain and a C-terminal trypsin-like peptidase domain which carries out the catalytic cleavage.
This page was last edited on 27 November 2020, at 02:15 (UTC).; Text is available under the Creative Commons Attribution-ShareAlike 4.0 License; additional terms may apply.