Hemophilia B: Symptoms, Causes & Treatment
هيموفيليا B
Hemophilia B is an inherited bleeding disorder caused by a deficiency of clotting factor IX, so blood clots slowly and bleeding recurs, especially in joints and muscles. It is managed by replacing the missing factor and specialized prophylaxis programs.
What is Hemophilia B?
Hemophilia B (also known as Christmas disease) is an inherited bleeding disorder caused by a deficiency or defect of clotting factor IX, a protein needed to form the clot that stops bleeding. Because of this deficiency, blood clots slowly, leading to spontaneous bleeding or prolonged bleeding after injuries and surgery.
It is inherited on the X chromosome, so it mainly affects males while females are usually carriers of the gene. Its severity ranges from mild to severe depending on the remaining factor level. Its hallmark is recurrent bleeding into joints, which over time can damage the joint if untreated. Modern therapies and regular prophylaxis programs have dramatically improved patients' quality of life and their ability to lead a near-normal life.
Symptoms
- Easy, large bruising.
- Prolonged bleeding after cuts, tooth extraction, or surgery.
- Bleeding into joints with pain, swelling, and stiffness.
- Blood in urine or stool in severe cases.
Causes
- A genetic mutation in the gene for clotting factor IX on the X chromosome.
- Transmission from a carrier mother to male children.
- A new mutation in some cases without a family history.
Diagnosis
- Coagulation tests (PT and aPTT).
- Measuring factor IX level to confirm the diagnosis and grade severity.
- Genetic testing and family-history assessment.
Treatment
Factor replacement
- Factor IX injections during bleeding or as regular prophylaxis.
- Long-acting products that reduce the number of injections.
Comprehensive care
- Follow-up at a specialized hemophilia center and physiotherapy for joints.
- Avoiding medicines that increase bleeding, such as aspirin.
This content is educational and does not replace consulting a hematologist.
Complications
- Chronic joint damage from repeated bleeding.
- Serious internal bleeding in the brain or organs.
- Development of antibodies (inhibitors) against the replacement factor.
Prevention
- Genetic counseling for carrier families.
- Regular prophylaxis to reduce bleeding.
- Avoiding injuries and choosing safe sports.
When to see a doctor
Go to the emergency department immediately for a severe headache after a head injury, bleeding that will not stop, or sudden joint pain and swelling. Follow up regularly at a hemophilia center. Book an appointment with a hematologist on ClinicsJo.