Abstract

Congenital dyserythropoietic anemia (CDA) is a series of diseases characterized by ineffective bone marrow erythropoiesis and unique morphology in optical microscope and electron microscope.The patients manifest various anemia,jaundice,hepatomegaly and splenomegaly in birth time,infants or young children periods,leading to gallstones or iron overload often.Clinical features,molecular mechanism,diagnostic approach and other aspects of single type of CDA or CDA Ⅰ,CDA Ⅱ,CDAⅢ and CDA variants as a whole have been presented in most essays in recent years.We now review the research progress of pathogenesis in CDA from a special profound perspective to promote the comprehensive understanding and to explore the possible relations among different types of CDA,regarding mutated genes,abnormal signal conduction pathway,cell cycle disorders,abnormal glycosylation,the relationship between genotype and phenotype as standard classifications and so on. Key words: Anemia,dyserythropoietic,congenital; Etiology

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