Article
Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation.
Blood - 1 Jan 2006
Heimpel Hermann, Schwarz Klaus, Ebnöther Monika, Goede Jeroen S, Heydrich Detlev, Kamp Torsten, Plaumann Lothar, Rath Bettina, Roessler Jochen, Schildknecht Otto, Schmid Mathias, Wuillemin Walter, Einsiedler Beate, Leichtle Rosi, Tamary Hannah, Kohne Elisabeth
Abstract excerpt
Congenital dyserythropoietic anemia type I (CDA I) is a rare autosomal recessive disorder with ineffective erythropoiesis and iron overloading. More than 100 cases have been described, but with the exception of a report on a large Bedouin tribe, these reports include only small numbers of cases, and no data on the lifetime evolution of the disease are available. Since 1967, we have been able to follow 21 cases...
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