Abstract
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 http://www.codysan.eu.
Highlights
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
CDA types I and II are inherited in an autosomal recessive manner, CDA type III and IV present an autosomal dominant inheritance pattern and Xlinked dyserythropoietic anemia with thrombocytopenia has an X-linked mode of inheritance
CoDysAn web algorithm has been developed with a set of 24 patients genetically diagnosed of different types of CDA (18 CDA type II, 1 CDA type Ib, 4 CDA type Ia, and 1 XLTDA) and with a set of 19 additional patients genetically diagnosed of non-CDA hereditable anemias including eight hereditary spherocytosis, four patients with pyruvate kinase defects, one patient with pyruvate kinase defect and a beta thalassemia trait, one patient with defects in hemolytic anemia due to adenylate kinase deficiency (AK1) gene, one patient with X-linked sideroblastic anemia, three patients with dehydrated hereditary stomatocytosis type 1 (DHS1) and one patient with dehydrated hereditary stomatocytosis type 2 (DHS2)
Summary
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. Blood iron levels should be closely monitored in CDA I, CDAII, and other CDA patients undergoing regular transfusions In these cases, morbidity may be severe due to iron overload complications that can be fatal if left untreated (Gambale et al, 2016; Palmer et al, 2018); it is imperative to monitor iron overload and induce iron depletion, when needed, by iron chelation. Toward this goal, we have developed a new telemedicine tool named CoDysAn (Congenital Dyserythropoietic Anemia) for the management and diagnosis of patients with this disease. CoDysAn web page includes a diagnosis algorithm tool to ease the classification and diagnostic of CDA types
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