The word hemophilia derives from two Greek words: haima, meaning blood, and philia, meaning affection.
Hemophilia is an hereditary condition. This means that it is passed on from mother to child at the time of conception.
The blood of a person with hemophilia does not clot normally. He does not bleed more profusely or more quickly than other people; however, he bleeds for a longer time.
Many people believe that hemophiliacs bleed a lot from minor cuts. This is a myth. External wounds are usually not serious. Far more important is internal bleeding (hemorrhaging). These hemorrhages are in joints, especially knees, ankles and elbows; and into tissues and muscles. When bleeding occurs in a vital organ, especially the brain, a hemophiliac’s life is in danger.
Hemophilia A is called by two other names:
- Classical hemophilia, because it is the most common of the factor deficiencies and
- Factor VIII deficiency hemophilia, because it is the lack of the factor 8 (written factor VIII) protein in the blood that causes the clotting problem.
Hemophilia B also goes by two other names:
- Christmas Disease, named after Steven Christmas, a Canadian who in 1952 was the first person to be diagnosed with this distinct form of hemophilia and
- Factor IX deficiency hemophilia, because factor 9 (written factor IX) is the blood protein which is lacking and whose absence slows down the normal clotting process.
Both hemophilia A and B are very rare disorders. Hemophilia A affects fewer than 1 in 10,000 people, or about 2500 Canadians. Hemophilia B is even less common, affecting approximately 1 in 50,000 people, or about 600 Canadians.
Hemophilia affects people of all races, colours and ethnic origins.
The most severe forms of hemophilia affect almost only males. Females can be seriously affected only if the father is a hemophiliac and the mother is a carrier, or in the case of X-inactivation when a woman’s normal X-chromosome is inactive in the production of factor VIII or IX. These cases are extremely rare. (See Heredity of hemophilia.)
However, many women who are carriers have symptoms of mild hemophilia. We are only now fully recognizing the importance of bleeding in carriers and the degree to which these symptoms affect a woman’s quality of life.
As hemophilia is an hereditary disorder, people are affected at birth. This means that children can have hemophilia. In fact, hemophilia is often diagnosed in the first year of life.
Without proper treatment, hemophilia is crippling and often fatal. With modern treatment, most people with hemophilia can lead full, active lives.
Hemophilia is classified as severe, moderate or mild.
|CLASSIFICATION||LEVEL OF FACTOR VIII
OR IX IN THE BLOOD
|Severe||Less than 1% of normal|
|Moderate||1 to 5% of normal|
|Mild||5 to 30% of normal|
Severe hemophiliacs with less than 1% of the normal level of factor VIII or IX in the blood have hemorrhages several times a month. The bleeding is often the result of a minor bump or twist. Sometimes, there is often no apparent cause for the bleeding.
Moderate hemophiliacs bleed less often. Their hemorrhages are often the result of minor trauma, such as a sports injury.
Mild hemophiliacs have even fewer hemorrhages. They may be aware of their bleeding problem only in the case of surgery, a tooth extraction or a serious injury. Women with mild hemophilia may bleed more during menstruation (periods).