Congenital dyserythropoietic anemias belong to a group of inherited conditions characterized by a maturation arrest during erythropoiesis with a reduced reticulocyte production in contrast with erythroid hyperplasia in bone marrow. The latter shows specific morphological abnormalities that allowed for a morphological classification of these conditions mainly represented by congenital dyserythropoietic anemias types I and II. The identification of their causative genes provided evidence that these conditions have different molecular mechanisms that induce abnormal cell maturation and division. Some altered proteins seem to be involved in the chromatin assembly, such as codanin-1 in congenital dyserythropoietic anemia I. The gene involved in congenital dyserythropoietic anemia II, the most frequent form, is SEC23B. This condition seems to belong to a group of diseases attributable to defects in the transport of newly synthesized proteins from endoplasmic reticulum to the Golgi. This review will analyze recent insights in congenital dyserythropoietic anemias types I and II. It will also attempt to clarify the relationship between mutations in causative genes and the clinical phenotype of these conditions.

Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach / Iolascon, Achille; Esposito, Mr; Russo, Roberta. - In: HAEMATOLOGICA. - ISSN 1592-8721. - 97:(2012), pp. 1786-1794. [10.3324/haematol.2012.072207]

Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach.

IOLASCON, ACHILLE;RUSSO, ROBERTA
2012

Abstract

Congenital dyserythropoietic anemias belong to a group of inherited conditions characterized by a maturation arrest during erythropoiesis with a reduced reticulocyte production in contrast with erythroid hyperplasia in bone marrow. The latter shows specific morphological abnormalities that allowed for a morphological classification of these conditions mainly represented by congenital dyserythropoietic anemias types I and II. The identification of their causative genes provided evidence that these conditions have different molecular mechanisms that induce abnormal cell maturation and division. Some altered proteins seem to be involved in the chromatin assembly, such as codanin-1 in congenital dyserythropoietic anemia I. The gene involved in congenital dyserythropoietic anemia II, the most frequent form, is SEC23B. This condition seems to belong to a group of diseases attributable to defects in the transport of newly synthesized proteins from endoplasmic reticulum to the Golgi. This review will analyze recent insights in congenital dyserythropoietic anemias types I and II. It will also attempt to clarify the relationship between mutations in causative genes and the clinical phenotype of these conditions.
2012
Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach / Iolascon, Achille; Esposito, Mr; Russo, Roberta. - In: HAEMATOLOGICA. - ISSN 1592-8721. - 97:(2012), pp. 1786-1794. [10.3324/haematol.2012.072207]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/509702
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 66
  • ???jsp.display-item.citation.isi??? 56
social impact