Get Easily Bruised? It May Be Due to Haemophilia B
If you bruise easily or experience prolonged bleeding after minor injuries, it might not just be a coincidence. You could be dealing with Haemophilia B, a rare genetic bleeding disorder. Observed on World Haemophilia Day every April 17, this condition deserves attention for its silent yet serious impact on everyday life.
What Is Haemophilia B?
Haemophilia B is a condition where the body lacks or produces insufficient clotting factor IX, a protein vital for blood clotting.
- Without factor IX, bleeding becomes prolonged, even after minor injuries or surgeries.
- In severe cases, bleeding can occur internally, without any visible injury, posing serious health risks.
- This disorder is also called Christmas disease, named after Stephen Christmas, the first diagnosed patient in 1952, as recorded in StatPearls.
Though less common than Haemophilia A, it is the second most prevalent type of haemophilia globally.
Symptoms of Haemophilia B
Symptoms vary depending on the severity of the condition, but they typically involve abnormal bleeding.
- Easy bruising without clear cause is one of the earliest signs.
- Prolonged bleeding after cuts, dental procedures, or minor injuries may be noticeable.
- In moderate to severe cases, there may be spontaneous joint bleeding, especially in the knees, elbows, and ankles, leading to swelling, stiffness, and pain.
- Internal bleeding may also affect muscles, soft tissues, or even cause blood in urine or stool.
- Rare but serious bleeding in the brain can result in headaches, seizures, or unconsciousness.
- Female carriers may have heavy menstrual bleeding or excessive bleeding after childbirth.
Causes of Haemophilia B
The disorder is caused by a mutation in the F9 gene, located on the X chromosome, which is responsible for producing clotting factor IX.
- As an X-linked recessive disorder, it mostly affects males, who inherit the defective gene from their mothers.
- Females usually carry one faulty X chromosome and are typically carriers, though they can exhibit mild symptoms.
- Since males have only one X chromosome, inheriting the mutation leads to the condition.
How Is Haemophilia B Diagnosed?
Diagnosis begins with a detailed medical and family history, especially if there’s a pattern of unexplained or excessive bleeding.
- The first test is usually activated partial thromboplastin time (APTT), which evaluates how long it takes for blood to clot.
- A factor IX assay confirms the diagnosis by measuring the activity level of clotting factor IX in the blood.
- Early diagnosis is important to prevent complications and initiate proper treatment.
Difference Between Haemophilia A and B
While both are inherited bleeding disorders, they differ in the clotting factor that is deficient.
- Haemophilia A is caused by a lack of factor VIII, whereas Haemophilia B results from a deficiency in factor IX.
- Both the F8 and F9 genes are located on the X chromosome, and both follow an X-linked recessive pattern.
- According to the CDC, Haemophilia A is 3 to 4 times more common than Haemophilia B.
- However, clinical symptoms—like joint bleeds, bruising, and prolonged bleeding—are often similar in both types.
Treatment Options for Haemophilia B
Although there is no cure, Haemophilia B can be effectively managed with medical treatment.
- The mainstay of treatment is replacement therapy, which involves infusing plasma-derived or synthetic factor IX to prevent or control bleeding.
- Gene therapy is an emerging option, offering long-term potential by enabling the body to produce its own factor IX.
- Supportive care, including physiotherapy, can help reduce joint damage and improve mobility after bleeds.
- Iron supplements may be prescribed to manage anemia from chronic blood loss.
- Family screening and genetic counseling are vital for early diagnosis and understanding the inheritance pattern.
Final Thoughts: Don’t Ignore the Signs
Haemophilia B, though rare, can have serious consequences if left undiagnosed or untreated.
- If you or a family member experience frequent bruising or unexplained bleeding, it’s important to consult a healthcare provider.
- Early diagnosis and consistent treatment can significantly improve quality of life.
- On this World Haemophilia Day, let’s raise awareness about this often-overlooked condition and ensure better care for those affected.
Frequently Asked Questions (FAQ) about Haemophilia B
Q1. What is Haemophilia B?
A: Haemophilia B is a genetic bleeding disorder where the body lacks enough clotting factor IX, making it difficult to stop bleeding after injuries. It’s also known as Christmas disease.
Q2. How is Haemophilia B different from Haemophilia A?
A: Haemophilia A is caused by a deficiency in factor VIII, while Haemophilia B is due to a factor IX deficiency. Both have similar symptoms but are caused by mutations in different genes.
Q3. What are the symptoms of Haemophilia B?
A: Common symptoms include easy bruising, prolonged bleeding, joint pain due to internal bleeding, and in severe cases, life-threatening internal bleeding, especially in the brain.
Q4. Who is most affected by Haemophilia B?
A: The disorder mostly affects males, as it’s passed down through an X-linked recessive gene. Females are usually carriers, though some may experience mild symptoms.
Q5. How is Haemophilia B diagnosed?
A: Diagnosis involves family history evaluation, blood tests like APTT, and a factor IX assay to confirm the level of clotting factor in the blood.
Q6. Is there a cure for Haemophilia B?
A: There is no permanent cure, but it can be managed through replacement therapy, gene therapy, and supportive care like physiotherapy and iron supplementation.
Q7. Can women get Haemophilia B?
A: While rare, women can experience symptoms if they inherit faulty X chromosomes from both parents or have skewed X-inactivation. Female carriers can also face heavy menstrual bleeding or excessive postpartum bleeding.
Q8. Is Haemophilia B life-threatening?
A: In severe cases, yes. Internal bleeding in organs like the brain or joints can be dangerous if not treated promptly.
Q9. Can children be tested for Haemophilia B?
A: Yes, especially if there is a family history. Early testing helps in starting preventive care and avoiding complications.
Q10. How can families manage Haemophilia B?
A: With genetic counseling, regular checkups, and access to factor IX treatment, families can manage the disorder and improve quality of life.
