Hemophilia, an orphan disease that can be controlled –

Hemophilia is a blood coagulation disorder that occurs due to an abnormality in the female sex chromosome, affecting the production of proteins necessary in the blood coagulation process and therefore these patients may have bleeding episodes. to repetition. In most cases it is hereditary and is transmitted from the mother to her sons.

Regarding the types of hemophilia, Dr. Jorge Ramírez Varela, a specialist in orthopedics and traumatology and in the management of musculoskeletal disorders in hemophilia, from the Grupo Quirónsalud Clinic, explains “there are two types of hemophilia, A, which is when the deficit occurs in factor VIII and B, when it is in factor IX of blood coagulation. But this condition does not always have a family history, since in 30% of cases it can appear for the first time in a member of a family with no history. To a much lesser extent, acquired hemophilia also occurs after a malignant tumor or a catastrophic disease, although it is not very frequent, it is usually serious, so early diagnosis is essential to avoid further complications.

Despite the fact that there are great scientific advances, hemophilia is still not curable “this condition occurs as the product of a genetic disorder, that is, the gene that encodes the blood coagulation protein is damaged. What the studies are currently looking for is to encode it through gene therapy in order to correct the disease” adds Dr. Ramírez.

The risks that hemophilia represents for those who suffer from it are mostly muscle or joint bleeding, but they can be generated in any organ where trauma occurs due to blows, accidents or surgeries that can lead to the loss of a significant amount of blood or damage muscles or joints. In addition, bleeding from the central nervous system in the brain, gastrointestinal bleeding, severe bleeding from the nose or mouth, those that are generated after surgery when there is no replacement of the factors that are deficient in the body, constitute a vital risk.

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To keep in mind:

  1. A family with cases of hemophilia should receive genetic counseling because the children they may have in the future are likely to present the disease. To this end, there are genomic medicine tests that detect the risks of suffering from this and other pathologies.
  2. It is necessary that the family and the work or school environment of a patient with hemophilia be educated about the risks and complications that occur if it is not managed appropriately.
  3. Due to the risks posed by the disease, patients should be managed in a comprehensive hemophilia center that has a clinical laboratory, coagulation factors available 24 hours a day, and a group of experts in pediatric and adult hematology, orthopedics, physiotherapy, and physiatry. , among other specialties.