Hemophilia is a disease in which normal blood clotting is impaired. The rate at which blood clots in persons suffering from hemophilia is abnormally slow because of a defect in one of the plasma clotting protein. The disease id present at birth and, in most common forms, is transmitted from mother to son. About one of every 10,000 males is born with severe hemophilia. Women who are carriers of the genetic factor which causes the disease usually have normal clotting themselves, but occasionally have some problems with bleeding. When a carrier has a son, he has an equal chance of being a hemophiliac or being normal. When a carrier has a daughter, she has an equal chance of being a carrier of not being a carrier . when a man with hemophilia has children, all his daughters will be free of hemophilia, assuming his wife is not a carrier. If she is, half of his sons would be hemophiliac.
Despite this seemingly predictable pattern, a high proportion of persons are born with hemophilia in families in which the disease has not appeared before. This apparently caused by spontaneous change in a gene (mutation) in a mother or grandmother. About one third of the males with hemophilia have the disease because of a recent mutation In the family. In some instances, the hemophilia is mild and the parents may not be aware that the child has the problem until he has a serious injury or a surgical operation, after which there is prolonged bleeding. Similarly, a tooth extraction may be first clue to the presence of the disease; there will be slow, persistent oozing of blood which may last for many days.
If the hemophilia Is severe, it is usually diagnosed early in the child’s life because as he learns to walk he is likely to bump into furniture of fall to the floor. What would be a harmless mishap to a normal child will trigger internal bleeding in a hemophilia and help will develop large bruises. If he accidentally bites tongue or lip, the bleeding may be hard to stop.
The internal bleeding may create more lasting problems than the external bleeding. By the time he is three or four years old he tends to hemorrhage into joints and muscles, sometimes after a slight injury or for no apparent reason. This accumulation of blood in a joint causes stiffness and severe pain and irritates the lining of the joint. In time, the young patient has symptoms typical of arthritis-pain and limitation of range of motion. the joints most commonly affected are the shoulders, elbows, hip, knees and ankles. The problems are made much more troublesome by hemorrhaging into the muscles which scar and shorten them, thus increasing the crippling effect. Persons with severe hemophilia suffer far less from arthritis and other crippling disorders that they din in years past, thanks to the development of new treatment methods. Today, hemorrhages can be stopped by injecting concentrates of missing clotting factors obtained from plasma donated by persons with normally clotting blood.
These concentrates are also used to prevent bleeding during and following and operation. Hemophiliacs or a family member can inject the concentrates at home. They are also encourage to maintain a regular program of physical exercise, including swimming. if there is orthopedic damage, the patient may be advised to have physical therapy to restore strength and suppleness to muscles and joints or other orthopedic treatment to correct deformation.
Most individuals what have hemophilia can look forward to a normal life of school and work, with attention given to activities and occupations which threaten injury
Despite this seemingly predictable pattern, a high proportion of persons are born with hemophilia in families in which the disease has not appeared before. This apparently caused by spontaneous change in a gene (mutation) in a mother or grandmother. About one third of the males with hemophilia have the disease because of a recent mutation In the family. In some instances, the hemophilia is mild and the parents may not be aware that the child has the problem until he has a serious injury or a surgical operation, after which there is prolonged bleeding. Similarly, a tooth extraction may be first clue to the presence of the disease; there will be slow, persistent oozing of blood which may last for many days.
If the hemophilia Is severe, it is usually diagnosed early in the child’s life because as he learns to walk he is likely to bump into furniture of fall to the floor. What would be a harmless mishap to a normal child will trigger internal bleeding in a hemophilia and help will develop large bruises. If he accidentally bites tongue or lip, the bleeding may be hard to stop.
The internal bleeding may create more lasting problems than the external bleeding. By the time he is three or four years old he tends to hemorrhage into joints and muscles, sometimes after a slight injury or for no apparent reason. This accumulation of blood in a joint causes stiffness and severe pain and irritates the lining of the joint. In time, the young patient has symptoms typical of arthritis-pain and limitation of range of motion. the joints most commonly affected are the shoulders, elbows, hip, knees and ankles. The problems are made much more troublesome by hemorrhaging into the muscles which scar and shorten them, thus increasing the crippling effect. Persons with severe hemophilia suffer far less from arthritis and other crippling disorders that they din in years past, thanks to the development of new treatment methods. Today, hemorrhages can be stopped by injecting concentrates of missing clotting factors obtained from plasma donated by persons with normally clotting blood.
These concentrates are also used to prevent bleeding during and following and operation. Hemophiliacs or a family member can inject the concentrates at home. They are also encourage to maintain a regular program of physical exercise, including swimming. if there is orthopedic damage, the patient may be advised to have physical therapy to restore strength and suppleness to muscles and joints or other orthopedic treatment to correct deformation.
Most individuals what have hemophilia can look forward to a normal life of school and work, with attention given to activities and occupations which threaten injury
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