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Haemophilia

Haemophilia is a relatively rare inherited disease caused by, a lack of one of the clotting factors in the blood, It is characterized by uncontrolled bleeding even from a minor wound, leading to a dangerous loss of blood, Ordinary activities can cause spontaneous internal bleeding into a joint, causing swelling and eventually deformities.

The disease varies in severity: about two-thirds of all haemophiliacs have the severe form of the disease and lone-third a milder disorder where the blood does clot, but very slowly, The disease appears in males and also, rarely, in women deficient in factor IX (haemophilia B; see below). The condition is inherited from the mother ('sex-linked'); she carries the gene without developing the disease herself. In approximately a third of all haemophiliacs no family history of the condition can he detected, This may he because it has been transmitted through several generations of female carriers without an affected male appearing, all record of a previously affected male having been lost to the memory of that family; alternatively, the disease may have arisen by a mutation (change) in the mother's genes.

The parents of a child with haemophilia may not become aware of the problem until the child starts to toddle, falls and cuts himself, The parents' suspicion of an abnormality may be raised by the appearance of unduly large bruises caused by a minor injury or even without an injury.

In the commonest form of haemophilia the blood of the person lacks a substance called factor VIII; and in another form, factor IX (sometimes known as Christmas factor) is lacking, Both factors VIII and IX are vital to the blood clotting mechanism.

Treatment

Since there are five times more haemophiliacs who lack factor VIII than factor IX, interest has been centred on obtaining factor VIII from the blood of normal people and injecting this into the circulation of the haemophiliac patient to correct, temporarily, the clotting abnormality of the blood, In order to supply enough factor VIII to stop bleeding, the missing factor extracted from 3-6litres (5-10 pints) of normal blood may be needed, Once injected into the circulation, the factor VIII remains in the blood for only a few hours, and it can take as long as ten days of intravenous infusion of factor VIII to produce wound healing. The principles of treatment of factor IX deficiency are similar. Factor XIII can now be manufactured synthetically.

Haemophiliacs should carry with them an identity card or disc giving details of name, address, doctor's telephone number and the hospital dealing with them, their blood group, factor deficiency and the level of the factor in the blood, Patients with severe haemophilia should not take part in contact sports, although swimming is considered safe. It is very important for haemophiliacs to have frequent dental care so that dental decay can be treated by fillings instead of extraction. Sometimes the loss of milk teeth can cause bleeding, and hospital care is needed.

Since aspirin may cause internal bleeding in the stomach, it should not be taken. Haemophiliacs should not receive deep injections into the muscles; injections into the skin surface, however, do not usually result in undue bleeding.

Purpura

Purpura is a general term for bleeding from small blood vessels in the skin and mucous membranes, causing purple patches and bruises to appear under the skin. This bleeding may occur spontaneously or after minor injury. One cause of purpura is a reduction in the number of platelets, vital in the clotting mechanism, because of a disorder in their production in the bone marrow (thrombocytopenia). Other causes include deficiency in platelet function, disorders of the blood vessels, and vitamin C or K deficiency. Treatment depends on the cause of the purpura. If blood loss is severe, transfusions may have to be given.

In immune thrombocytopenic purpura (ITP), bleeding occurs because the platelets are damaged and then destroyed by an antibody reaction, The antibody may arise for no known reason or as a result of infection, If the cause is an autoimmune response - a reaction of the body against its own cells - blood transfusions and steroid drugs are given, With this treatment most cases are cured in a few weeks, but sometimes surgery to remove the spleen may have to be carried out before there is any improvement.

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