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Blood Disorders : Haemophilia
  The body depends on clotting of blood to stop bleeding after injury and to help healing. Normal blood clotting restricts bruising after injury and stops the. bleeding into muscles and joints which can follow minor injuries associated with activities of everyday life. Normal blood clotting depends on the interaction of many substances within the blood. The critical are the clotting factors. Humans have 13 clotting factors which facilitate blood clotting whenever bleeding occurs. Haemophilia is a blood disorder where an essential clotting factor is missing, either either partly or completely. This leads to a person afflicted with this condition to bleed longer than normal. Cuts and grazes are not serious problems since such bleeding can be stopped by applying a little plaster and applying plaster/bandage. The serious issue is internal bleeding in joints, muscles and soft tissues. Haemophilia patients can experience spontaneous bleeding usually into the joints. If left untreated bleeding causes acute pain and severe joint damage leading to disability. Bleeding episodes have caused difficulties with education and employment, as well as mobility problems for many who have been crippled by the effects of regular bleeding into joints.

Haemophilia A is a type of this disorder where Clotting Factor VIII is missing. This is the classical or general type of haemophilia. Haemophilia B also called Christmas Disease is the type caused by an abnormality in the clotting protein Factor IX. Haemophilia is a genetically inherited condition. It generally affects males only but interestingly is usually carried in the female genes. However interestingly about a third of new diagnoses are where there is no previous family history. It is a lifelong condition, appears world-wide and occurs in all racial groups.

Genetic Transmission of the hemophilia gene is by females on one of their X chromosomes and may be passed to their male offspring. This is why Haemophilia is called an X-linked genetic condition. Female carriers of Haemophilia have one X chromosome with a working (normal) gene and one X chromosome with a nonworking (defective) gene. There is a 50% chance the carrier will pass the Hemophilia gene on to male offspring. In other words, there is a 50% chance that each of her male children will have Haemophilia. There also is a 50% chance the carrier will pass the Haemophilia gene on to her female offspring, meaning that there is a 50% chance each of her daughters will also be carriers.

Haemophilia occurs in about 1:5,000 male births. In general, the more severe the Haemophilia the earlier the signs of abnormal bruising or bleeding. Babies seldom have problems until they begin to crawl and start to walk. The inevitable falls and bumps which occur in toddlers may cause skin bruises and bleeding from the lips and tongue. From 2-3 years of age, bleeds (haemorrhages) may involve muscles and joints with painful swelling or a lack of movement of an arm or leg. Injections given into the muscle in the usual manner can produce a large deep bruise which may be dangerous. Immunizations are important and these may be given with safety just beneath the skin (subcutaneously). Hence early identification and control of Haemophilia is important.

Prevention and Control in this disorder is very important. As soon as a child is diagnosed parents should take precautions to prevent or reduce the occurrence of bleeding. Many of the following recommendations also apply to older people with hemophilia.
  • Injections given into the muscle in the usual manner can produce a large deep bruise which may be dangerous. Immunizations are important and these may be given with safety just beneath the skin (subcutaneously).
  • Choose sensible soft toys without sharp corners.
  • Padded clothes may be used.
  • Proper dental care is a must since infected teeth can bleed and complicate matters.
  • Encourage the child to exercise regularly and be physically fit. Strong muscles support joints and reduce the numbers of bleeds.
  • Contact sports such as boxing and rugby football are strictly prohibited.
Testing for either confirming a Haemophilia carrier or for the presence of the disorder is done in specialised labs. Early identification of a carrier helps in subsequent identification of offspring afflicted by the disorder and its control.

Treatment for Haemophilia involves replacement of the missing clotting factor. This is by injecting it on a regular basis (called prophylaxis) to help prevent bleeding, or injecting at the time a bleed occurs (called on-demand therapy). Regular treatment by prophylaxis - 2 or 3 times a week - helps the blood to clot and minimise the likelihood of long term joint damage. Unfortunately, there is no permanent way of replacing or increasing the clotting factor level.

A bleeding disorder similar to Haemophilia is called von Willebrand Disease (vWd). This disorder is normally less severe than haemophilia and can affect both sexes. When it is mild there can be a problem of regular nosebleeds, bruising, and, in women, heavy periods. There is a rare and more severe type where some of the symptoms and aspects of its treatment are similar to those of severe haemophilia.
 
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