Haemophilia

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.

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.

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).

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

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.

Common symptoms of hemophilia are:

• bleeding into joints (knees, elbows, ankles, shoulders, hips, wrists in descending order of frequency)
• bleeding into soft tissues and muscles (the ileopsoas muscle around the hip, calf, forearm, upper arm, Achilles tendon, buttocks)
• bleeding in the mouth from a cut, bitten tongue or loss of a tooth (especially in children)
• blood in the urine (hematuria)
• surface bruising.

Bleeding is often caused by minor injury – a bump or a slight twist of a joint. However, many hemorrhages, especially among severe hemophiliacs, 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 hemorrhages in the brain often have no apparent cause. Brain hemorrhages are the leading cause of death from bleeding in hemophilia. Therefore it is important to recognize the symptoms of a brain hemorrhage very quickly.

Some of the following symptoms may occur in a person with bleeding in the brain.

• Persistent or increasing headache
• Repeated vomiting
• Sleepiness or a change in normal behaviour
• Sudden weakness or clumsiness of an arm or leg
• Stiffness of the neck or complaints of pain with neck movement
• Complaints of seeing double
• The development of crossed eyes
• Poor balance when walking, a lack of coordination
• Convulsions or seizures (fits).

Any bleeding in a vital area is serious. Important examples are:

• bleeding in the neck, throat or tongue (this could block the airway)
• bleeding in the ileopsoas muscle across the front of the hip (this could pinch important nerves to the leg)
• bleeding in the forearm or calf (this could pinch important nerves to the hand or foot)
• bleeding in joints, especially knees, ankles and elbows (repeated bleeds in joints can lead to loss of range of motion, muscle loss, and destruction of the joints themselves).

A hemorrhage into a joint, if untreated, goes on for days. This is what happens.

• The first sign is a feeling of tightness in the joint but no real pain. The joint feels a little puffy to the touch.
• As the hours pass, the joint becomes hot to the touch. Fully flexing or extending the joint becomes painful. Weight bearing becomes difficult. By this time, the joint is visibly swollen.
• As the bleeding continues and the swelling increases, all movement in the joint is lost. The joint becomes fixed in a slightly flexed position in an attempt to relieve the interior pressure in the joint. The pain at this point can be excruciating.
• The bleeding slows after several days when the joint is so full of blood that the pressure inside the joint cavity is equal to the pressure inside the broken blood vessels. Slowly, the bleeding stops and the long process of absorbing the blood in the joint cavity begins.

After several hemorrhages like this, the joint is permanently damaged.

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. Others may have a bleeding tendency. If they have have low factor levels, women and girls will have haemophilia.

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.