Hemophilia Health

Hemophilia, also referred to as "The Royal Disease", is a bleeding disorder in which a mutation in the X-chromosome causes a clotting factor to be minimal or in some cases missing completely. It causes a person with the disease to bleed for longer periods of time or even bleed internally into joints, either from injury, or just spontaneously depending on the severity.

There are 13 proteins or clotting factors in which the blood goes through to complete and form a blood clot.There are different types of Hemophilia each with different missing or mutated clotting factor genes. For instance, changes in the Factor 8 gene is what causes Hemophilia A. Hemophilia B is caused by mutation of the Factor 9 gene. These are the two most common types of hemophilia. It may sound confusing but think of a drop of blood as a puzzle with 13 pieces, each representing a clotting factor which helps hold a blood clot together. In a Hemophiliac patient, one of those puzzle pieces is missing, so as the blood begins making its way through the chain of each factor to create a clot, when it reaches the chain factor 8 (or factor 9, depending on which type of hemophilia you're dealing with), the clot is unable to continue and finish the process leaving the clot to fall apart. Hemophilia also causes muscle bleeds, joint bleeds and soft tissue bleeds which are mostly superficial and harmless and only appear in the form of bruises.

There are different levels of severity of Hemophila- mild, moderate, and severe. It is important to know which level you have, since determining the proper treatment will depend on the severity of your condition.

Mild Hemophila- patients with mild hemophilia have some clotting factor 8 or 9. The usually only have bleeding episodes after serious injury, trauma or surgery. In most cases patients with mild hemophilia don't even know they have it until one of the above occurs, the first episode usually does not occur until adulthood.

Moderate Hemophilia- affects about 15% of patients with hemophilia. They have a small amount of factor 8 or 9 allowing for some help with clotting but they also experience bleeding episodes after injuries, requiring treatment to help with the clotting process. In some rare cases they may even have spontaneous bleeding episodes, bleeding with no obvious cause.

Severe Hemophilia- people with severe hemophilia make up about 60% of the hemophilia population. These patients have less than 1% (or none) of clotting factor 8 or 9. They are unable to create a clot without treatment and need routine infusions to prevent frequent internal bleeding. Severe hemophiliacs frequently have spontaneous bleeding episodes into the joints and muscles.

Hemophilia A and B are inherited in an X-linked recessive genetic pattern and therefore is much more common in males. It is the most common X-linked genetic disease. Hemophilia can only be passed to a child by it's mother, being as the mother is the carrier of this X-linked gene. The mother has 2 X genes, one carrying the genetic mutation of Hemophilia, and one not, this being so, there is a 50% chance that her male child will be born with Hemophilia. There is also a 50% chance that her daughter would be born a carrier of hemophilia.

There is also the question "can a man with Hemophilia affect his children?" The answer is yes and no. If a man with Hemophilia has children, his boys will not be affected but his girls will indefinitely be carriers giving his male grandchildren from his daughter a 50% chance of being affected with the disease and female grandchildren a 50% chance of being carriers. That is how Hemophilia is passed along the family.

Statistics- Hemophilia A (the more common type) affects 1 in every 5,000 live male births. Hemophilia B (more rare) affects 1 in every 20-34,000 live male births.