What is Haemophilia

Haemophilia is a rare, inherited bleeding disorder in which the blood does not clot properly due to a deficiency in specific clotting proteins called factors. People living with Haemophilia may experience prolonged bleeding after injuries, surgery, or, in severe cases, spontaneous internal bleeding into joints and muscles.

What exactly is Haemophilia and how does it affect the body?

At its core, Haemophilia is a condition that impairs the body's natural ability to stop bleeding. When a blood vessel is injured, the body typically uses proteins known as clotting factors to form a "plug" or clot. In patients with Haemophilia, these factors are missing or defective, meaning the bleeding process takes much longer than normal. This primarily affects the circulatory and musculoskeletal systems; when bleeding occurs internally—specifically into joints like the knees, elbows, and ankles—it can lead to chronic pain, swelling, and long-term joint damage if not managed with appropriate replacement therapy.

What are the different types of Haemophilia?

The condition is classified based on which clotting factor is deficient and the severity of that deficiency. The two primary forms are:

• Haemophilia A (Classic Haemophilia): Caused by a deficiency in Factor VIII. This is the most common form, accounting for approximately 80% of all cases.


• Haemophilia B (Christmas Disease): Caused by a deficiency in Factor IX. While the symptoms are clinically similar to Haemophilia A, the genetic mutation involved is different.

Severity is further categorized as mild, moderate, or severe, depending on the percentage of clotting factor activity remaining in the blood.

Who is typically affected by Haemophilia?

Haemophilia is primarily a genetic condition that is inherited in an X-linked recessive pattern. Because of this inheritance pattern, it almost exclusively affects males, as they have only one X chromosome. Females are typically carriers, meaning they carry the gene mutation but usually do not manifest the severe symptoms of the disease. While symptoms often appear in early childhood—sometimes noticed during circumcision or when a toddler begins to crawl and bruise easily—some individuals with mild forms may not be diagnosed until later in life, often following a surgical procedure or significant trauma. Globally, the prevalence is estimated at approximately 1 in 5,000 to 10,000 live male births for Haemophilia A, and about 1 in 30,000 for Haemophilia B.

How is Haemophilia different from other bleeding disorders?

It is important to distinguish Haemophilia from other conditions like von Willebrand disease or platelet disorders. Unlike platelet disorders, where the issue lies with the blood cells themselves, Haemophilia is specifically a disorder of the coagulation cascade (the chemical process of clotting). Additionally, while other bleeding disorders may affect both genders equally, the X-linked nature of Haemophilia creates a distinct gender-based prevalence that is central to its diagnosis and genetic counseling.

Next steps

• Consult a hematologist specializing in bleeding disorders to establish a comprehensive care plan.


• Join our community at DiseaseMaps.org to connect with 334 other members living with this condition to share experiences and coping strategies.


• Contact the World Federation of Hemophilia (WFH) for resources on local treatment centers and patient advocacy.


• Ensure you carry a medical alert identification card at all times to inform emergency responders of your condition.

Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment; always seek the advice of your physician or qualified health provider with any questions regarding a medical condition.

References

• World Federation of Hemophilia (WFH) - wfh.org


• NIH Genetic and Rare Diseases Information Center (GARD) - rarediseases.info.nih.gov


• Orphanet: The portal for rare diseases and orphan drugs - orpha.net


• OMIM (Online Mendelian Inheritance in Man) - omim.org