Haemophilia

Haemophilia 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 haemophilia 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 haemophiliacs bleed a lot from minor cuts. This is a myth. External wounds are usually not serious. Far more important is internal bleeding (hemorrhaging). These haemorrhages are in joints, especially knees, ankles and elbows; and into tissues and muscles. When bleeding occurs in a vital organ, especially the brain, a haemophiliac’s life is in danger.

Haemophilia A, or Classical Haemophilia, is the most common form, and is caused by having reduced levels of factor VIII (8). Haemophilia B, or Christmas Disease, is caused by having reduced levels of factor IX (9).

Haemophilia affects people of all races, colours and ethnic origins.

The most severe forms of haemophilia affect almost only males. Females can be seriously affected only if the father is a haemophiliac 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.

However, many women who are carriers have symptoms of mild haemophilia. We are only now fully recognising the importance of bleeding in carriers and the degree to which these symptoms affect a woman’s quality of life.

As haemophilia is an hereditary disorder, people are affected at birth. This means that children can have haemophilia. In fact, haemophilia is often diagnosed in the first year of life.

Without proper treatment, haemophilia is crippling and often fatal. With modern treatment, most people with haemophilia can lead full, active lives.

Haemophilia is classified as severe, moderate or mild.

Severe haemophiliacs with less than 1% of the normal level of factor VIII or IX in the blood have haemorrhages 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 haemophiliacs bleed less often. Their haemorrhages are often the result of minor trauma, such as a sports injury.

Mild haemophiliacs have even fewer haemorrhages. They may be aware of their bleeding problem only in the case of surgery, a tooth extraction or a serious injury. Women with mild haemophilia may bleed more during menstruation (periods).

Babies have sharp teeth and bite their gums and tongue, often causing bleeding. This and bruises from falls are usually the first signs of haemophilia.

Until the age of 2, bleeding into joints is uncommon. Most bleeds are surface bruises. When babies are learning to walk, they fall frequently and suffer many bumps and bruises.

Bleeding into the joints, soft tissues and muscles is seen more frequently after the age of two.

Bleeding is often caused by minor injury – a bump or a slight twist of a joint. However, many haemorrhages, especially among severe haemophiliacs, happen for no apparent reason. This is even truer in joints that have bled often in the past. The more a joint has bled, the easier it bleeds again with no external cause.

Even haemorrhages in the brain often have no apparent cause. Brain haemorrhages are the leading cause of death from bleeding in haemophilia. Therefore it is important to recognise the symptoms of a brain haemorrhage very quickly.

Haemophilia is an inherited condition and occurs in families; however, in 1/3 of cases it appears in families with no previous history of the disorder. The genetic alteration causing haemophilia is passed down from parent to child through generations. Men with haemophilia will pass the altered gene on to their daughters but not their sons. Women who carry the altered gene can pass it on to their sons and daughters. Sons with the gene will have haemophilia. Most women and girls who carry the gene do not have bleeding symptoms. However, others may have a bleeding tendency, especially if they have have low factor levels. These women and girls will have haemophilia and need to receive treatment.

The diagrams below may assist in understanding this. The red males are those with haemophilia; the red and blue females carry the gene – they have X chromosome with the genetic alteration and one unaltered X chromosome.