Hemophilia: What Is It and Why Is It So Rare?

Everyone gets scrapes and bruises from the bumps of everyday life. However, for some people, a bruise or even a small cut can be much more serious.

Hemophilia is a rare genetic bleeding disorder in which blood does not clot properly. This condition can lead to spontaneous bleeding and continuous bleeding following injuries. Because they have few, or no, clotting agents in their blood, it is difficult for hemophilia sufferers to stop bleeding, potentially causing a number of complications.

Although the condition is rare, knowing the ins and outs of hemophilia can help you be aware of the signs and symptoms in your own family members, as well as help spread awareness for others who might be suffering. And with World Hemophilia Day on April 17, 2023, it’s the perfect time for you to shed some light on this disease.

Here is all you need to know about hemophilia:

Who is at risk?

Hemophilia is an inherited disease, caused by a mutation in genes. These genes are typically carried on the X chromosome. Because most of the genes making up who we are are carried on our X chromosomes, those who have only a single X chromosome are more likely to suffer from hemophilia, because there is not a duplicate "safe" copy for their bodies to draw upon. This is why people with hemophilia are much more likely to have XY chromosomes. In fact, this disease occurs in 1 of every 5000 births of people with XY chromosomes.

While people with XX chromosomes are unlikely to have the disease, because it would require both chromosomes to carry the mutation, it is possible for individuals with XX chromosomes to be carriers of hemophilia, potentially passing it on to their children. Most people who have hemophilia are born with it, however, in rare cases, elderly people or women who have recently given birth or are in late stages of pregnancy can also develop the condition.

What are the symptoms?

Hemophilia has to do with a lack of clotting factors in the blood, which coincides with spontaneous or excessive bleeding. When parents knowingly carry the gene, their babies are often tested for the disease soon after birth. But some symptoms and signs of this condition can manifest as the following:

• Continuous or excessive bleeding or bruising from minor injuries
• Many unexplained large or deep bruises
• Excessive bleeding after dental work or surgery
• Chronic pain or swelling of joints like the ankles, elbows, and knees
• Unexplained, frequent nosebleeds
• In infants: bleeding after vaccinations, unexplained irritability, bleeding after circumcision

What is the treatment?

Although the disease is incurable, many hemophilia sufferers are given treatments through vein infusions that replace the missing clotting factors in their blood. Doing this can prevent excessive bleeding episodes.

What are the complications?

Over time, sufferers may have serious joint damage from repeated bleeds in their joints and muscles, which can affect movement and cause chronic pain. Any injuries to the head, including minor bumps can be dangerous for hemophilia sufferers, as it can cause bleeding in the brain. Also, about 20 percent of people with hemophilia can develop antibodies that attack and destroy the clotting factors that are used to treat the condition, preventing adequate treatment.

What can you do?

Even if you, or those close to you, don't suffer from hemophilia, you can still help spread awareness for those who do struggle with bleeding disorders. The World Federation of Hemophilia is all about supporting and educating the world about bleeding disorders.

Educating yourself and sharing awareness for hemophilia on social media can help fund research for the disease and help those who are in treatment find the resources they need to lead healthy lives. Learning first aid techniques can also be a factor between life and death if you are ever trying to stop someone who suffers from bleeding.

This World Hemophilia Day, spread awareness on this disease that affects thousands around the world.