Master Specialty Presentation

This is the first Master in Europe that deals comprehensively with anemias of low prevalence or  "rare anemias", relating the basic aspects of the pathology of erythropoiesis with clinical manifestations of anaemia due to failure of the bone marrow and/or  red blood cell (RBC) defects that, so far, have been treated independently at university level.
Iron deficiency in children, menstruating women, adults with chronic diseases and elderly, are the most common causes of anemia in the European population. However, there is a group of anemias of  with complex or unknown mechanisms that are known as “rare anaemias” (RA) due to their low prevalence in Europe (less than 5 in 10,000 individuals). More than 80% of RA are hereditary and in the last 20 years, their social and economic importance has strongly b increased due to immigration.

Among the inherited anemias, hemoglobinopathies are the most common, and it is estimated that in the world there are about 269 million carriers. Hemoglobinopathies are the consequence of mutations in globin genes responsible for the synthesis of hemoglobin, the main component of RBCs. These mutations result in different hemoglobin structural variants (structural hemoglobinopathies) or in a decreased globin chain synthesis (thalassemia). In Europe, certain populations are particularly at risk of having a hemoglobinopathy because its prevalence is higher in the South when compared to central and northern Europe. One example is thalassemia that is  inherent in European populations at risk (Mediterranean anemia) whereas the vast majority of hemoglobinopathies, especially sickle cell disease ( SCD) have been imported with the immigration of populations from the African continent, the middle east and Southeast Asia.

SCD and the majority of RAs due to defects in erythropoiesis or RBCs are chronic and relapsing diseases, where each recurrence carries the potential risk of accumulating irreversible damage. These diseases strongly interfere with patient’s quality of life or working profile, and can be a notorious source of disability and dependence. Moreover, given the absence of gene therapy available,  the treatment is always palliative and most times consistent in blood transfusions that can lead to iron overload, which in turn, need also treatment. The only existing curative treatment is hematopoietic stem cell transplantation (HSCT) only used for highly severe clinical cases. Accordingly, an optimal management of these patients requires a very fine balance between efficacy and toxicity that can only be acquired with experience and long time specialized knowledge.
A recent survey of Eurocord / European Blood and Marrow Transplant Group showed that, in Europe, 70,000 patients diagnosed with ECF, only 700 have received a HSCT. This is due to socioeconomic factors, lack of coordination among experts and local health centers and lack of multidisciplinary clinical care. Other factors include the lack of awareness by health professionals, who do not sufficiently inform patients and their families, and the lack of a common register for epidemiological studies and planning health policy. It is very important to reduce the gap between unmet need care and expectations of patients with rare anemias that need access to treatment optima independently of their place of residence.

Diagnosis and treatment of these diseases is not yet completely solved, and for this reason, professionals taking care on these patients have to be aware of knowledge progress but also of the limitations imposed by the misunderstanding of involved pathogenic mechanism/s. Moreover, they should be able to distinguish between patients who can undergo conventional  treatment recommendations from those who may need non-conventional treatments based on experimental or research procedures. Physicians caring for these patients should know assimilate information from clinical trials and select relevant information without the pressures of the pharmaceutical market.

Currently there is no medical specialty dedicated to the care of this group of patients and for this reason, in the coming years it will be a priority to increase the number of experts in clinical care patients with rare anaemias but also trained personnel to perform and/or support the development of research projects, both in basic science and industrial environment. Despite this obvious need, so far has not been offered to professionals attend each day these patients a program of interdisciplinary training that encompasses all knowledge and clinical skills in autoimmune disease and also covers the basics of the health economics and research specifically applied to the patient suffering from any of these diseases.
The master offered here provides a comprehensive, holistic and complementary program, aimed precisely to medical professionals seeking excellence in their training to treat patients with rare anaemias and to develop research in this area.

* Specialty of the "Master in Advanced Medical Skills" linked to the doctoral program "Medicine", with Quality (ANECA).