What is hemophilia?

Hemophilia is an inherited bleeding disorder. All blood contains clotting factors, which is what stops bleeding. People with hemophilia have either a low level or absence of one of these clotting factors in their blood.

People with hemophilia do not bleed faster than other people. Minor cuts and injuries will not cause them to bleed to death. Clotting just takes longer; how much longer depends on the severity of the disorder. The major problem for people with hemophilia is internal bleeding, mostly into muscles and joints.

What is the difference between hemophilia A and hemophilia B?

Hemophilia A—sometimes called classical hemophilia—, is caused by a deficiency of factor VIII, and hemophilia B—sometimes called Christmas disease—is caused by a deficiency of factor IX. The only difference between these two types is that hemophilia A is about five times more common than hemophilia B.

Are there other types of bleeding disorders?

Yes, several other factor deficiencies that also cause abnormal bleeding include deficiencies in factors I, II, V, VII, X, XI, XIII and von Willebrand factor. The most severe forms of these deficiencies are rarer than hemophilia A and B.

How does a person get hemophilia?

Hemophilia is a genetic disorder, which is typically inherited. It cannot be caught or transmitted in any other way. The hemophilia gene is passed down from a parent to a child.

About one third of new cases are caused by a new mutation of the gene in the mother or the child. In these cases, there is no previous history of hemophilia in the family.

Is hemophilia lifelong?

There is no “cure” for hemophilia; a person born with it will have it for life. The level of factor VIII or IX in his blood usually stays the same throughout his life.

What are the signs of hemophilia?

• Large bruises
• Bleeding into muscles and joints, especially the knees, elbow, and ankles
• Spontaneous bleeding (sudden bleeding inside the body for no obvious reason)
• Bleeding for a long time after getting a cut, removing a tooth, or having surgery
• Serious internal bleeding into vital organs, most commonly after a serious trauma

How is hemophilia diagnosed?

A blood sample is taken and measured for the level of factor activity in the blood. Hemophilia A is diagnosed through testing the level of factor VIII coagulation activity in the blood; hemophilia B is diagnosed by measuring the level of factor IX activity.

These tests can be done at a hemophilia treatment centre. A list of treatment centers around the US is available on our website; a list of worldwide centers is accessible from the WFH web site.

Where do internal bleeds occur?

In people with hemophilia, most bleeding happens internally, into the joints or muscles.The joints that are most often affected are the knee, ankle, and elbow. Repeated bleeding without prompt treatment can damage the cartilage and the bone in a joint, leading to chronic arthritis and disability. The most serious muscle bleeds are the iliopsoas muscle (the front of the groin area), the forearm, and the calf. Some bleeds can be life-threatening and require immediate treatment. These include bleeds in the head, throat, gut, or iliopsoas.

Hemophilia Myths

Myth: Only males inherit bleeding disorders.

Genetically speaking, boys inherit hemophilia from their mother, who is a carrier. However, girls can also be symptomatic carriers (meaning they are subject to mild bleeds) or have von Willebrand disease, which affects both males and females equally.

Myth: Hemophilia can be outgrown, or severe cases can become mild over time.

Hemophilia is a bleeding disorder caused by the absence of an essential blood clotting protein. A person will always have the same level of factor deficiency they were born with.

Myth: If a person with hemophilia gets cut, they will bleed to death.

The truth is that a person with hemophilia will bleed longer (in some cases, much longer) than someone with a normal level of clotting factor. In most cases, the bleed will stop, usually through an emergency treatment of factor.

Myth: If a person takes iron, certain vitamins, or eats peanut butter, hemophilia can be cured.

Since hemophilia is characterized by a specific clotting factor that is missing, none of these “treatments” will change this fact.

Myth: Hemophilia is the same for all patients: everyone with hemophilia has the same level of deficiency.

There three recognized levels to describe hemophilia: mild (clotting activity above 5%), moderate (clotting level between 1% and 5%), and severe (clotting level less than 1%).

Myth: A person with hemophilia cannot live a normal life.

With prophylaxis treatment (infusing a small amount of factor into one’s system on a regular, prescribed basis), a person with hemophilia is able to enjoy a normal, active lifestyle.

Myth: Everyone who has hemophilia is a direct descendant from Queen Victoria.

Queen Victoria’s family tree is perhaps the most famous collection of documented hemophilia cases. However, even though hemophilia is an inherited disease, there has been documentation of the transmission of hemophilia from unaffected mothers (those without a genetic history of hemophilia) to their sons from as far back as 1803. This means that the genetic component of hemophilia is not directly traceable to Queen Victoria.

Myth: People with bleeding disorders bleed harder

The Fact is that they bleed longer. Harder and longer are easily confused. When there is an injury in a blood vessel, the vessels constrict and platelets go to the injury to form a clot. In a person with hemophilia, the clotting protein may be missing or not functioning properly, which results in the formation of a clot which is soft and mushy and breaks away, resulting in bleeding longer. Not harder.

Myth: Hemophilia skips a generation

When a woman is a carrier of the hemophilia gene, for every pregnancy, the chance of producing a child with hemophilia or a female who is a carrier is decided like the toss of a coin. If the pregnancy does not result in a child with hemophilia and a carrier daughter is not identified, it may seem like hemophilia has skipped a generation.

Myth: People with hemophilia will bleed to death by the time they are 12 years old.

With education and the care of a knowledgeable physician, a person with hemophilia can live a long and productive life.

Myth: Family members can have different severities of hemophilia

Since the same gene defect is passed through the family, the only way there could be different degrees of severity would be if there were another mutation or gene deletion. However, the severity of bleeding can appear different between family members based on their individual life activity choices.

Myth: Hemophilia is contagious

Since hemophilia is caused by a defective gene, and genes can only be passed through inheritance, there is no possibility of hemophilia being contagious.

Myth: My child won’t get hurt if I watch them

Parents can create a child-safe environment and supervise their children vigilantly, which can avoid injuries. Remember, however, that anyone with hemophilia, especially severe, can and will bleed often without an identifiable cause. And all it takes is a split second for a child to get into a dangerous situation. The best bet is to work with the child’s doctor to be prepared for injury, and then be thankful every day it doesn’t happen.

Myth: All children with hemophilia will eventually get bad joints

In the past, this was much more true. But today we have options like factor concentrates and prophylactic regimens, and doctors are much more knowledgeable about joint care. Bad joints will continue to be possibility for people with hemophilia, but with the more aggressive treatment available, it is slowly becoming the exception and not the rule.

Myth: If I wait until I see a problem, then I really know it is a bleed

A bubbling or tingling sensation, or just feeling funny, can be the first sign of a bleed. If you wait until you see something, bleeding has already occurred. This can be especially dangerous in the event of a head bleed.

Waiting to see if a joint becomes swollen and painful can be a precursor to a target joint. When in doubt, treat. Don’t wait.