What is Hemophilia?
Hemophilia also spelled hemophilia is hereditary bleeding disorder caused by a deficiency of a substance necessary for blood clotting. The inability of blood to clot, or coagulate, leading to excessive bleeding, even from minor injuries is the trademark of Hemophilia. Hemophilia is put in two types as: A and B.
The transmission of this condition is normally sex-linked, being expressed mostly only in males but transmitted solely by females; sons of a hemophilic male are normal, but daughters, although externally normal, may transmit the trait as an overt defect to half their sons and as a recessive or hidden trait to half their daughters.
What causes Hemophilia?
An inherited sex-linked recessive trait is Hemophilia. The gene responsible for this is positioned on the X chromosome.
The density of symptoms may differ with this disease, and very early itself the severe forms become visible. The disease is typical for the bleeding and typically occurs if an infant is circumcised. Additional bleeding manifestations make their appearance when the infant becomes mobile. Mild cases may go unnoticed until later in life when try occur in response to surgery or trauma. Inside bleeding may happen anywhere, and bleeding into joints is common. As it is hereditary family history will be the main factor whether any one have bleeding and especially being male also.
What are the Symptoms?
Commonly observed symptoms are: bruising, spontaneous bleeding, bleeding into joints and associated pain and swelling, gastrointestinal tract and urinary tract hemorrhage, blood in the urine or stool, excessive and prolonged bleeding from cuts, tooth extraction, surgery bruises that are unusual in location or number, nosebleeds that won’t stop, and painful or swollen joints
The incidence of hemophilia tends to be familial; its existence in certain royal families of Europe is well known. The increased tendency to bleeding usually becomes noticeable early in life and may lead to severe anemia or even death. Large bruises of the skin and soft tissue are often seen, usually following injury so trivial as to be unnoticed. There may also be bleeding in the mouth, nose, and gastrointestinal tract. After childhood, hemorrhages in the joints—notably the knees, ankles, and elbows—are frequent, resulting in swelling and impaired function.
How is Hemophilia Diagnosed?
Medical practitioners analyze hemophilia by performing a set of blood tests. Coagulation studies involving many tests are performed if the person tested is the first one in the family to have a bleeding disorder. After being identified the defect rest of the family members need not be tested for this disorder.
Widely seen medical consequences of hemophilia are: Chronic joint deformities, Intra-cerebral hemorrhage are another possible complication.
At present the cure is just controlling the disorder hemophilia; arresting the spreading of this disorder with medications, such as clotting factor replacement therapy.
Persons with hemophilia are ordinarily advised to keep away from activities that might expose them to bodily injury. The management of bleeding episodes includes the local application of haemostatic agents, such as thrombin, and the transfusion of fresh blood (anti-hemophilic activity rapidly decreases in stored blood) when hemorrhage is excessive. Various commercial preparations containing anti-hemophilic concentrates from normal blood are also available.
Prevention of trauma is important for the patient with hemophilia. When bleeding occurs, replacement therapy may be necessary. Freshly frozen blood plasma can be used to treat mild forms of the disease. In severe cases, patients can administer plasma extracts at home either in a freeze-dried form that is storable for six months at room temperature or for a year in the refrigerator; or else in a form called cryoprecipitate, a concentrate that is prepared from fresh blood and must be refrigerated.
Hemophilia A occurs is 1 out of 10,000 men in the United States. About 80 per cent of all cases of hemophilia have an identifiable family history of the disease; in other instances, it may be attributable to a spontaneous mutation of genes. Inheritance is controlled by a recessive sex-linked factor carried by the mother on the X chromosome. A probability of one in two exists that each boy born to a normal male and a carrier female will be hemophiliac and the same chance that each girl of this union will be a carrier. Of the children of a hemophiliac male and a normal female, all the girls will be carriers and all the boys will be normal. Males cannot transmit the disability, and female carriers are free of the disease.