What Is Hemophilia? 10 Key Facts to Know This World Hemophilia Day

Hemophilia is a rare bleeding disorder in which the blood doesn’t clot properly due to a deficiency or absence of blood-clotting proteins (clotting factors). If you have hemophilia, you may bleed for a longer time after an injury than someone whose blood clots normally.

Every year on April 17, the world comes together to recognize World Hemophilia Day, a global initiative aimed at raising awareness about hemophilia and other inherited bleeding disorders. This date was chosen in honor of Frank Schnabel, founder of the World Federation of Hemophilia. Hemophilia significantly impacts the lives of those affected — not just medically, but socially and emotionally as well. With evolving treatments and increased awareness, there's growing hope for improved quality of life and potential cures in the future.

As we observe this important day, here are 10 key facts every healthcare professional and concerned individual should know about this condition:

1. Hemophilia is a genetic disorder – It is usually inherited and passed down through families, primarily affecting males. The faulty gene is located on the X chromosome. Everyone has two sex chromosomes: females inherit two X chromosomes (one from each parent), while males inherit one X chromosome from the mother and one Y chromosome from the father.

2. It primarily affects males – Since males have only one X chromosome, inheriting the faulty gene means they are affected. Females who inherit the gene typically become carriers, though some may also show symptoms due to skewed X-chromosome inactivation.

3. It affects the blood’s ability to clot – People with hemophilia have low levels or a complete absence of clotting factors (commonly factor VIII or IX). As a result, even minor cuts or injuries can cause excessive or prolonged bleeding, depending on the severity of the deficiency.

4. There are two main types of hemophilia – Congenital and Acquired. Congenital hemophilia is inherited and includes:

   • Hemophilia A – caused by factor VIII deficiency

   • Hemophilia B – caused by factor IX deficiency
     Acquired hemophilia, on the other hand, develops when a person’s immune system attacks clotting factors (especially VIII or IX). This can occur during pregnancy, in autoimmune disorders, cancer, or multiple sclerosis.

5. Initial symptoms – Common early signs include large or deep bruises, unexplained bleeding, joint swelling, and blood in the urine or stool.

6. Major complication – In severe cases, internal bleeding is a significant concern, especially in the knees, ankles, and elbows. Repeated bleeding into joints can lead to chronic pain, swelling, and arthritis-like joint damage over time.

7. Treatment doesn't provide a cure – While there is no cure, hemophilia is managed with regular infusions of clotting factor concentrates to prevent or control bleeding episodes.

8. Diagnosis – Hemophilia is diagnosed through clotting factor tests, genetic testing, family history, and newborn screening programs.

9. It varies in severity – Hemophilia can be mild, moderate, or severe, depending on how much of the clotting factor is present in the blood.

10. Gene therapy offers new hope – Advances in gene therapy are showing promise for long-term treatment and potentially a cure in the future.

MedBound Times connected with Dr. Munish Raizada, MD, FAAP for his insights on World Hemophilia Day. He stated the following:

Go to MedBound Hub for the discussion and provide your pearls of wisdom on Hemophilia: https://www.medboundhub.com/t/april-17-world-hemophilia-day-provide-your-pearls-of-wisdom/327

_MSM