World Haemophilia Day 2025 — Understanding The Rare Bleeding Disorder

{By: Dr. Vijay Ramanan} 

Haemophilia B constitutes a severe rare genetic bleeding condition which interferes strongly with blood clotting mechanisms. People who receive early diagnosis and receive effective treatment while participating in growing awareness programs about Haemophilia B can maintain satisfaction during their lives. The following text responds to essential questions regarding the disease state of Haemophilia B.

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What Is Haemophilia B?

The X-linked recessive genetic disease known as Haemophilia B leads to improper blood clotting because individuals lack or have dysfunctional clotting factor IX which is encoded by the protein. The blood requires longer time to clot when this factor is insufficient because it results in bleeding that lasts longer and may initiate without provocation. Medical professionals identify this condition as Christmas Disease while also using the name of Stephen Christmas who received the first diagnosis in 1952.

What Are The Symptoms?

Symptom intensity depends on the amount of factor IX found in the blood. Common signs include:

  • Easy Bruising
  • After injuries, surgeries, dental procedures and other situations, individuals may observe extended bleeding times.
  • A person with this condition may experience unexpected bleeding that enters joints leading to pain combined with swelling.
  • Blood in the urine or stool
  • Life-threatening internal bleeding in severe cases

What Causes Haemophilia B?

The disease develops because of genetic mutations which appear on the F9 gene present on the X chromosome. Male patients typically experience Haemophilia B symptoms since it exists as an X-linked disorder yet females serve as carriers who may have reduced factor IX levels. The factor IX levels of female carriers can be low or high so their symptoms might be mild.

How Is It Diagnosed?

Diagnosis involves:

  • A detailed medical and family history
  • The tests Activated Partial Thromboplastin Time (APTT) alongside other clotting tests help diagnose the condition.
  • Blood analysis includes a Specific Factor IX assay to measure the factor IX activity present in the blood.

How Is Haemophilia B Different From Haemophilia A?

1. Clotting Factor Deficient:

  • Haemophilia A: Deficiency of Factor VIII
  • Haemophilia B: Deficiency of Factor IX

2. Gene Involved:

  • Haemophilia A: Mutation in the F8 gene
  • Haemophilia B: Mutation in the F9 gene

3. Location Of Gene:

  • Both F8 and F9 genes are located on the X chromosome

4. Also Known As:

  • Haemophilia A: Classic Haemophilia
  • Haemophilia B: Christmas Disease

5. Frequency:

  • Haemophilia A: More common (about 80–85% of cases)
  • Haemophilia B: Less common (about 15–20% of cases)

6. Symptoms: 

  • Both conditions have similar symptoms such as joint bleeding and prolonged bleeding.

7. Diagnosis Method: 

  • Haemophilia A: Diagnosed using Factor VIII assay
  • Haemophilia B: Diagnosed using Factor IX assay

8. Treatment Type: 

  • Haemophilia A: Treated with Factor VIII replacement therapy
  • Haemophilia B: Treated with Factor IX replacement therapy

9. Advanced Therapies:

  • Haemophilia A: Includes Emicizumab and gene therapy
  • Haemophilia B: Gene therapy is more advanced and promising

10. Inheritance Pattern:

  • Both are inherited in an X-linked recessive manner, affecting mostly males while females are typically carriers.

The author, Dr. Vijay Ramanan, is the Senior Consultant Clinical Haematologist, Bone Marrow & Stem Cell Transplant at Ruby Hall Clinic.

[Disclaimer: The information provided in the article, including treatment suggestions shared by doctors, is intended for general informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition.]

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