April 17 is marked as World Hemophilia Day. Let us each throw in a point or two.
Hemophilia is X-linked recessive disorder. Thus, it is a hereditary bleeding disorder. Being X-Recessive, it occurs predominantly in males.
This year’s theme on Hemophilia Day is: “Women and Girls Can Bleed too.”
Thus, the question is: Can Hemophilia occur in females?
The answer is: Yes, it can, but not that frequently.
As we can understand from genetics, females can be a carrier of Hemophilia gene, but if they inherit both abnormal X genes, they can be affected with Hemophilia too. In females, the disease is less severe.
Also, remember, de -novo mutations can occur in 30-50 % cases, so it can occur in males as well as females.
hemophilia #BleedingDisorders
How Hemophilia Was Discovered:
Early Historical References:
- 2nd Century AD: The first known description of a bleeding disorder resembling hemophilia appears in Jewish texts, where certain boys from a family were exempt from circumcision due to excessive bleeding in relatives.
- 10th Century: Arabic physician Albucasis (Al-Zahrawi) described a family where males died from bleeding after minor injuries — another early sign of hemophilia.
“Royal Disease”:
- Hemophilia became widely known in the 19th century as the “Royal Disease” because it affected the descendants of Queen Victoria of England.
- She was a carrier of hemophilia B and passed it on to several royal families of Europe, including Spain, Germany, and Russia.
- The most famous case: Tsarevich Alexei Romanov (son of the last Russian Tsar), who suffered from hemophilia.
Hemophilia is a rare inherited bleeding disorder where the blood doesn’t clot properly due to a deficiency or absence of clotting factors—Factor VIII in Hemophilia A and Factor IX in Hemophilia B. This leads to prolonged bleeding, especially into joints and muscles, even from minor injuries.
Prevalence:
Hemophilia A occurs in about 1 in 5,000 male births,while Hemophilia B affects about 1 in 25,000 male births. It is far more common in males, as it is an X-linked recessive disorder.
It varies in severity. It depends on the deficiency level of clotting factors of the person affected. Some may suffer from severe internal bleeding even from a small bump on the head . But some may not have bleeding issues till the person have a surgery.
Easy bruising, prolonged bleeding
Hemarthrosis (bleeding into joints, especially knees)
Muscle hematomas
Prolonged bleeding after trauma/surgery
Let’s remember the one most important thing to diagnose, how the patient presents.
In Neonates: excessive bleeding during line placements, circumcision may be a clue towards the diagnosis. Also, rarely sub galeal hematoma may happen in neonates after a difficult delivery.
let’s spread awareness about this lifelong bleeding disorder.
Hemophilia is usually inherited and mostly affects males. It occurs when the blood lacks certain clotting factors, causing prolonged bleeding after injuries or even spontaneous bleeding into joints and muscles.
Early diagnosis, regular treatment with clotting factor therapy, and avoiding trauma are key. With proper care, people with hemophilia can live full, healthy lives. Awareness can save lives—let’s share the knowledge!
Many still believe it’s solely a “male disease” but understanding the possibility of affected females will definitely help in early detection and better treatment.
This awareness is also mostly relevant for physiotherapists treating women with chronic musculoskeletal conditions or joint instabilities, especially in preventing and managing hemarthrosis, which if left untreated, can lead to chronic arthropathy.
Dental Procedures are a bit risky for patients with Hemophilia. So, it’s always necessary to disclose the information for pre-treatment with factor + antifibrinolytics.
I have heard one of the doctor saying the Hemophilia cases are declining now. How true is that statement as Hemophilia is genetic disease?
Not sure. Because in many parts of the world, hemophilia detection rate/ diagnosis rate is so low as to 10%. Thus there is a great level of disparity when it comes to knowledge and diagnosis about hemophilia.