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.
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.
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.
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.
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.