Refractory Anaemia (Myelodysplasia)

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Refractory Anaemia (Myelodysplasia)

ORPHANET code: 98826

  • What causes the disease and how common is it?
    Refractory Anaemia (RA) is part of the heterogeneous group of diseases that affects normal blood cell production in the bone marrow and a category of myelodysplastic syndrome (MDS) . One example of RA is the 5q-syndrome. In RA, marrow blood cells fail to mature properly and are unable to work properly. They often die before they leave the marrow, or shortly after reaching the bloodstream (ineffective erythropoiesis or dyserythropoiesis). There are few data on the epidemiology of RA, which may account for 30-40% of all MDS cases. MDS is predominantly diagnosed in the elderly population. The global incidence of all MDS was comprised between 3,5 and 12,6 new cases / year / per 100,000 in some studies.
  • What are the most frequent symptoms if I have the disease?
    Without enough normal cells being produced by the bone marrow (red cells, white cells and platelets) people with RA can become fatigued, more susceptible to infections, and to bleeding and bruising more easily. There are several different types of RA and the disease can vary in its severity and the degree to which normal blood cell production is affected. About 30% of people with MDS will progress to a form of cancer called acute myeloid leukaemia (AML). It is sometimes referred to as a pre-leukaemic disorder.
  • Which treatment must I follow if I have the disease?
    The aim of RA treatment is to get the number and type of blood cells in your bloodstream back to normal, and manage symptoms with supportive treatment (blood transfusions, iron quelation, injections of growth factor drugs and antibiotics ) Immunosuppression treatment (anti-thymocyte immunoglobulin (ATG) and ciclosporin) Chemotherapy and eventually stem-cell bone marrow transplantment.
  • What is the risk of passing the condition on to my children?
    This is an acquired disorder.
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