Haemophilia is a group of inherited blood disorders that affect the blood’s ability to form clots. Protein factors in white blood cells clot and form scabs on cuts, so without them a could bleed to death from a relatively minor cut. People who have haemophilia require transfusions of blood plasma and blood products in order to maintain a suitable level of blood clotting ability.
There are two main types of haemophilia: type A and type B. Type A is the most common, and is caused by a lack of the plasma protein factor VIII, which aids blood clotting. It is an inherited disorder carried through the female line but affects men at the rate of one in every 10,000. Half of the daughters of a female carrier will carry the defective gene, and all of the female children of a male haemophiliac will be carriers.
Type B haemophilia is also sometimes called Christmas disease. It is seven times rarer than type A haemophilia and is caused by a lack of a different plasma protein, factor IX. It also is an inherited disorder, and is carried in the female line in the same manner as Type A haemophilia.
Symptoms of haemophilia
Haemophilia is a spectrum complaint, meaning that the symptoms can vary significantly from person to person in their severity. The most significant symptom of either type of haemophilia is bleeding, which may go unnoticed in early childhood if it is mild.
As the child grows older, bleeding becomes more manifest, especially if the child undergoes surgery. Internal bleeding may occur anywhere in the body, and in the joints. Nosebleeds, bruising, spontaneous bleeding, haemorrhaging and excessive bleeding from cuts or during tooth extraction are all signs of haemophilia.
Treatment
Unfortunately, there is no cure for haemophilia. The only way to prevent haemophilia would be genetically to screen potential female carriers of the defective chromosome.
The disorder can be held in check and treated, however. The defective clotting factor, whether factor VIII or factor IX, can be replaced by an infusion of factor concentrates extracted from donated blood. People with haemophilia can be given instructions on how to administer blood factor products at home, but infusions are often done in hospital.
With regular infusions, haemophiliacs can lead relatively normal healthy lives. It is recommended that diagnosed haemophiliacs receive vaccinations against hepatitis.
In the recent past, contaminated blood products were given to haemophiliac patients in Ireland, leading to many deaths. The Lindsay Tribunal is currently investigating this scandal. Blood products in Ireland are now carefully screened for any possible infection.
