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Why would the lack of this factor in your blood make you bleed more easily?
Hemophilia B, also known as Christmas disease, is a blood clotting disorder caused by an inherited gene mutation that causes sufferers to bruise and bleed easily. Hemophilia B is caused by a deficiency of clotting factor IX and is less common than hemophilia A, which is caused by a deficiency of clotting factor VIII. The disease was first identified as a distinct form in 1952, named after Stephen Christmas, the first person described as having hemophilia B.
The current prevalence of hemophilia B in the general population is approximately 1 in 10,000 to 40,000 people, and approximately 15% of all hemophiliacs have hemophilia B.
Symptoms and complications
Symptoms of hemophilia B include easy bruising, urinary tract bleeding, nose bleeds, and joint bleeding. In terms of complications, these patients are often at higher risk for periodontal disease and tooth decay because the fear of bleeding can lead to a lack of good oral hygiene and care.
The most obvious oral manifestation of mild hemophilia B patients may be gingival bleeding during the shedding of primary teeth or prolonged bleeding after tooth extraction, while severe patients may experience spontaneous oral bleeding.
Genetics
The gene for factor IX is located on chromosome X, making it an X-linked recessive trait, which explains the greater number of male patients. Experts point out that the cause of hemophilia B is a mutation in the F9 gene, which affects the production of blood clotting factor IX.
PathophysiologyAbout a third of people with hemophilia have no family history of the disease. This occurs when a gene mutates randomly during reproduction and is passed on at fertilization.
The absence of factor IX results in an increased tendency to bleed, which may occur spontaneously or in response to minor trauma. When there is trauma, the absence of factor IX interferes with the coagulation cascade.
Diagnosis and differential diagnosis
The diagnosis of hemophilia B can be made with coagulation screening tests, bleeding scores, and clotting factor tests. Special attention should be paid to distinguishing the disease from other conditions such as hemophilia A and von Willebrand disease.
Treatment methods
Treatment is usually given when major bleeding occurs and may include intravenous Factor IX or blood transfusions. NSAIDs should be avoided as they may worsen bleeding. Any surgical procedure must be performed with concurrent administration of hemostatic agents.
In November 2022, the US FDA approved Etranacogene dezaparvovec (Hemgenix) as the first gene therapy for the treatment of hemophilia B.
Dental Considerations
Any surgery, including simple tooth extraction, must be planned ahead to reduce the risk of excessive bleeding, bruising, or hematoma formation.
Research Status
Currently, research is underway on hemophilia B, including one gene therapy candidate, FLT180, which uses an adeno-associated virus to restore normal levels of factor IX.
Historical BackgroundThe family background of Stephen Christmas, the first person described as suffering from Christmas disease, who was born in 1947, and his experience with the disease led to further medical advances in research.
Society and Culture
Hemophilia B is known as the "royal disease" because of its occurrence in British and other European royal families. Queen Victoria was a carrier of the disease, which she passed on to other members of the royal family.
Have you ever thought about how the impact of these rare diseases in public health might change the way we think about gene therapy?
