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Hemophilia Symptoms, Causes, Diagnosis And Treatment

Discussion in 'Hematology' started by Egyptian Doctor, Oct 28, 2012.

  1. Egyptian Doctor

    Egyptian Doctor Moderator Verified Doctor

    Mar 21, 2011
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    Hemophilia is a haematological genetic disease generally affecting men. The main symptom of this disease is the occurrence of an abnormal bleeding. Hemophilia is passed on, the child inheriting from the mother some abnormal clotting factors.

    Signs and symptoms of hemophilia

    The main symptom of hemophilia is the occurrence of an abnormal bleeding. This may be intramuscular or occurring after an injury or surgical intervention. In people with hemophilia, bleeding time after cuts, injury, surgery or tooth extraction increases considerably. Other signs such as the presence of large bruises, joint pain, epistaxis,swollen feet and joints are common. Digestive tract bleeding, occurrence of sudden pain, swollen joints or excessive bleeding from minor injury are obvious warning signs that the patient usually observes and presents to the doctor. In some cases, however, hemophilia may develop as asymptomatic for a long period of time. Bleeding problems may occur only after surgery, tooth extraction or following injury. Often, infants show no signs of hemophilia. Symptoms begin to appear when the child begins to walk, fall and strike certain objects. In these cases, bruises appear immediately.

    Hemophilia Causes

    Although hemophilia is one of the most common inherited bleeding disorder, is not a very common disease. Haemophilia A and B occur, in most cases in men. Generally hemophilia A and B are transmitted from mother to child through a gene. Men can not transmit the gene that leads to the disease. Women inherit an X chromosome from the mother and one X chromosome from the father. Males inherit an X chromosome from the mother and one Y chromosome from the father. The gene that causeshemophilia A and B is located on chromosome X. Most women who have an abnormal gene, are simple carriers without symptoms of the disease. It is also possible that hemophilia A or B to occur through a spontaneous mutation of a gene. Deficiency of factor IX (hemophilia C) can occur in both sexes. It is not as severe as hemophilia A or B. Gene defects that lead to deficiency of factor IX can be transmitted to children through a different pattern from that of hemophilia A and B.

    Hemophilia Diagnosis

    Diagnosis of hemophilia can be determined set in several ways. For those with a family history of disease, fetal monitoring is recommended to detect any signs of disease. Analysis of blood samples from the child or adult can show one deficiency of coagulation factors. A prolonged bleeding after circumcision may be the first sign of hemophilia in a boy. Sometimes the boys who were not circumcised, the diagnosis may be indicated by the appearance of lesions and bruises. Mild hemophilia, in some cases, may not be diagnosed until excessive bleeding occurs (most often after surgery).

    Hemophilia Treatment

    Treatment varies depending on the severity of the disease. For cases of mild hemophilia A bleeding episodes can be treated by intravenous injection of desmopressin. This substance helps to stop bleeding by stimulating the release of factor VIII and vasoconstriction. In case of hemophilia B or severe hemophilia A, bleeding can be stopped only after the administration of coagulation factors derived from human donors by blood or genetically engineered products called recombinant clotting factors. In factor XI deficiency, plasma transfusions are used to stop the bleeding episodes.

    Coagulation factors administered 2-3 times a week can prevent bleeding in hemophilia A and B. The doctor will instruct the patient on how to manage home desmopressin or clotting factors, without the need for hospitalization. Depending on the severity of hemophilia additional measures to minimize bleeding during physical activity or dental surgical procedures may be required. Sometimes, the disease is more difficult to control due to the development of antibodies against coagulation factors used for treatment.

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