Hemophilia

April 2017


Definition


Hemophilia is a problem that affects blood coagulation and that is caused by a deficiency of the production of blood clotting agents. This disease, hereditary and recessive, is linked to the X sex chromosome. Therefore, it is transmitted by the mother and can only affect boys (women are characterized by having two X sex chromosomes, while males have one X chromosome and one Y chromosome, the gene being alone in men, it is necessarily expressed). Hemophilia is responsible for recurrent bleeding which can be serious. These hemorrhages can affect every organ in the body, including the joints. There are several types of hemophilia: hemophilia type A or, type B called classical hemophilia: the coagulation factor deficiency distinguishes these two types. Note that we sometimes refer to a certain hemophilia C, or Rosenthal disease, but it differs greatly from the other two types.

Symptoms


The symptoms of hemophilia depend on the deficit of the coagulation factor. These may include:
  • more or less abundant bleeding after a minor trauma or occurring spontaneously in childhood;
  • easy bruising at the slightest touch;
  • frequent bleeding in the joints, called hemarthrosis;
  • bleeding in the muscles;
  • bleeding from the mouth, including the gums when brushing teeth;
  • urinary bleeding, gastrointestinal, or non-externalized bleeding, sometimes called internal bleeding.

Diagnosis


The diagnosis of hemophilia occurs in the laboratory. Initially done with a blood sample, different blood clotting times are tested to identify their timing. To characterize the type of hemophilia, an assay of coagulation factors is realized and will quantify the severity of the deficit.

Treatment


Current treatments do not cure hemophilia, but can create a minimal coagulating action to prevent or stop the occurrence of bleeding. The treatment of hemophilia patients is by administering the missing clotting agents that correspond to the type of hemophilia in question. In severe hemophilia, it is necessary to administer these agents in high doses, as a preventive measure. In the case of haemarthrosis, which are frequent in hemophiliacs, analgesics and immobilization may be sufficient, but sometimes it is necessary to perform a joint aspiration to drain any blood.

Prevention


It is not possible to prevent hemophilia. Some medications such as aspirin and anticoagulants should not be administered. A patient must always remember to carry on himself a hemophiliac card explaining his type of hemophilia and the usual treatment.

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Published by Jeff. Latest update on November 19, 2013 at 10:59 AM by Jeff.
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