What is hemophilia?
“Hemophilia is a rare genetic disorder in which blood does not clot properly due to deficiency of clotting factors, which leads to prolonged bleeding after trauma and can cause spontaneous bleeding episodes,” said Dr Kunal Sehgal, CEO and Chief Pathologist, Neuberg Sehgal Path Lab (India).
Why are men more likely to get hemophilia than women?
Hemophilia is caused by mutations in the HEMA gene located on the X chromosome. The location of this gene on the X chromosome makes hemophilia more common in males.
“Men are more likely to have hemophilia because it is an X-linked recessive disorder,” explains Dr. Sehgal. “Men have one X chromosome and one Y chromosome, so if they inherit an X chromosome with a hemophilia gene mutation, they will have the disorder. However, women have two X chromosomes, so even if one X chromosome has a mutation, the other X chromosome usually provides enough clotting factor. Women are usually carriers of the gene and rarely show symptoms.”
Common symptoms of hemophilia
The main symptoms of hemophilia include:
- Prolonged bleeding
- Frequent bruising
- Joint pain and swelling (especially in the knees, elbows and ankles)
- Spontaneous bleeding episodes
“These symptoms can disrupt daily life, cause chronic joint pain, limit mobility, and prolong recovery from injury,” Dr. Sehgal adds. “Daily activities may need to be modified to prevent excessive bleeding.”
