South African Haemophilia Foundation (SAHF) Medical and Scientific Advisory Council (MASAC) Treatment Guidelines - Treatment of Bleeding Episodes

Haemophilia

What is 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).

Who is affected by Haemophilia?

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.

How serious is Haemophilia?

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.

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 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).

First signs of Haemophilia in a young child

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.

Symptoms of Haemophilia in an older child or adult

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

What causes the bleeding?

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.

Symptoms of bleeding into the brain

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).

Other kinds of bleeding that are serious

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).

Signs and symptoms of joint bleed

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.

How Haemophilia is inherited

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.

Haemophilia Genetic Inheritance Diagram

Glossary of Coagulation Terms

Antifibrinolytic Inhibiting the breakdown of fibrin, the blood component that forms the essential portion of a blood clot
Autosomal Relating to any chromosome that is not a sex chromosome
Afibrinogenemia The absence of fibrinogen from the blood
Coagulopathy A disorder that prevents normal clotting of the blood
Dysfibrinogenemiac Malfunction of fibrinogen in the blood
Fibrinogen Factor I, a protein in the blood that is converted to fibrin by the action of thrombin
Glycoprotein A protein compound that also contains carbohydrate
Hypofibrinogenemia A low or deficient level of fibrinogen in the blood
Platelet A component of blood that contributes to coagulation
Prothrombin Factor II, a protein in the blood that is converted to thrombin in the coagulation process
Thrombin An enzyme derived from prothrombin that converts fibrinogen to fibrin