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Technology and Code ARTICLE Provisionally accepted The full-text will be published soon. Notify me

Front. Physiol. | doi: 10.3389/fphys.2019.01063

CoDysAn: A telemedicine tool to improve awareness and diagnosis for patients with Congenital Dyserythropoietic Anemia

  • 1BloodGenetics SL, Spain
  • 2Other, Spain
  • 3Bioinformatics for Health Sciences Master Programme, Universitat Pompeu Fabra (UPF), Spain
  • 4Whole Genix SL., Spain
  • 5Universitat de Vic - Universitat Central de Catalunya, Spain
  • 6Josep Carreras Leukaemia Research Institute, Spain
  • 7Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Italy
  • 8Ceinge Biotecnologie Avanzate s.c. a r.l., Italy
  • 9Faculty of Medicine and Health Sciences, International University of Catalonia, Spain
  • 10Department of Clinical Hematology, Hospital Germans Trias i Pujol, Spain

Congenital Dyserythropoietic Anemia (CDA) is a heterogeneous group of hematological disorders characterized by chronic hyporegenerative anemia and distinct morphological abnormalities of erythroid precursors in the bone marrow. In many cases, a final diagnosis is not achieved due to different levels of awareness for the diagnosis of CDAs and lack of use of advanced diagnostic procedures. Researchers have identified five major types of CDA: types I, II, III, IV and X-linked dyserythropoietic anemia and thrombocytopenia (XLDAT). Proper management in CDA is still unsatisfactory, as the different subtypes of CDA have different genetic causes and different but overlapping patterns of signs and symptoms. For this reason, we developed a new telemedicine tool that will help doctors to achieve a faster diagnostic for this disease.
Using open access code, we have created a responsive webpage named CoDysAn (Congenital Dyserythropoietic Anemia) that includes practical information for CDA awareness and a step-by-step diagnostic tool based on a CDA algorithm. The site is currently available in four languages (Catalan, Spanish, Italian and English).
This telemedicine webpage is available at

Keywords: telemedicine tool, Congenital dyserythropoietic anemia, diagnosis, algorithm, Anemia

Received: 28 Mar 2019; Accepted: 02 Aug 2019.

Copyright: © 2019 Tornador, Sánchez-Prados, Cadenas, Russo, Venturi, Andolfo, Hernández-Rodriguez, Iolascon and Sánchez. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Dr. Mayka Sánchez, Faculty of Medicine and Health Sciences, International University of Catalonia, Barcelona, Catalonia, Spain,