Myths and Facts About Hemophilia

Myth: If a person with hemophilia gets a cut, he’ll bleed to death.

Highly unlikely. People with hemophilia do not bleed any faster or harder than those without the disease, they simply bleed for longer. Even so, superficial cuts or abrasions are generally not a cause for concern and a bandaid will suffice in most cases. For joint and muscle bleeds, apply usual first aid treatment including rest, ice, compression and elevation (or R.I.C.E). The real concern for serious bleeding is if internal organs and/or deep tissues, muscles and joints are hurt. After any injury, if in doubt, contact your treatment team.

Myth: Hemophilia affects only boys.

While most people assume hemophilia only affects boys, occasionally girls who are “silent carriers” can suffer bleeding symptoms as well. Though extremely rare, a daughter who is born to a father with hemophilia and a mother who is a carrier can actually inherit the severe form of the disease.

Myth: Everyone with hemophilia has the same level of deficiency.

Nope. “Depending upon the specific genetic change or mutation in a given family, the severity of the deficiency or level of clotting factor in the blood varies from a severe deficiency to moderate to more mild forms of the disease,” says Dr. Fahner.

Myth: Family members can have different clinical severities of hemophilia.

No. Given that the same gene defect is passed down through the family, all members will have the same level of severity. Some may seem like they have milder or more severe cases depending on how active and/or accident-prone they are, but unless there has been a genetic mutation all family members will be identical in the severity they express. There are caveats to this, however: other factors may influence the severity seen in individuals in the same family, including the presence of inhibitors or other bleeding and coagulation disorders. In addition, if one family member gets an inhibitor, it raises the risk of other siblings getting one as well — although this risk isn’t absolute.

Myth: All forms of hemophilia involve a deficiency in clotting factor VIII.

Not true. Hemophilia A (also known as Classical Hemophilia and Factor VIII Deficiency Hemophilia) is the most common and is a deficiency in clotting factor VIII. However, Hemophilia B (aka Christmas Disease and Factor IX Deficiency Hemophilia) is—you guessed it—a deficiency in factor IX. Hemophilia C occurs from a lack in factor XI.

Myth: Patients with hemophilia always have a family history of the disease.

“A very important false,” says Dr. Fahner. “The gene defect responsible for hemophilia has oneof the highest rates of spontaneous brand new mutations of any human genetic disorder. Some researchers estimate that as many as one-third of the cases of hemophilia are new mutations with no family history of the disease.”

Myth: Everyone with hemophilia will eventually get bad joints.

While this used to be very often the case, the good news is that, with safer and more readily available clotting factor concentrates, many people with hemophilia today will be able to prevent long-term joint injury and crippling arthritic changes. Key to this is patients receiving primary (preventative) prophylaxis where they are given a dose of factor to actually prevent a bleed rather than treating it once it has begun, starting before any joint damage has occurred.

Myth: It’s ok to wait until one sees something and really knows it’s a bleed before acting.

This is a big no in any situation. “Act immediately because especially in brain trauma it can be life and death,” says Dr. Mills. When in doubt, treat and then get it checked out.