John Libbey Eurotext

Hématologie

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Congenital dyserythropoietic anemias Volume 16, issue 3, mai-juin 2010

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Authors
Laboratoire d'hématologie, Hôpital Saint-Antoine, Paris, Inserm U779, Faculté de Médecine Paris-Sud, Université Paris-Sud, Le Kremlin-Bicêtre

Congenital dyserythropoietic anemias (CDA) consist of a group of heterogeneous, rare genetic diseases. They include an anemia of variable severity, an inefficient erythropoiesis, a hemolytic component, a marked iron overload and a number of manifestations specific for each CDA. The marrow exhibits an erythroid hyperplasia as well as abnormalities of the division of erythroblasts and of their nuclei. The classification of CDA has long rested on the morphological alterations observed in the marrow upon light and electron microscopy. Immunological and biochemical changes have also been brought to light in some instances. CDA I and II are, by far, the most common forms. They are also the best characterized since the corresponding genes have been identified in most cases. Many other CDA remain phenotypically ill-defined. We have no clue as to their genetic origin. Beside the symptomatic treatments, such as transfusions and ferrochelation, a few specific treatments exist and still they are empirical.