Topic
Congenital dyserythropoietic anemia
About: Congenital dyserythropoietic anemia is a research topic. Over the lifetime, 279 publications have been published within this topic receiving 5714 citations. The topic is also known as: congenital dyshaematopoietic anaemia & CDA.
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TL;DR: The results provide in vivo evidence forSEC23B selectivity in erythroid differentiation and show that SEC23A and SEC23B, although highly related paralogous secretory COPII components, are nonredundant in ERYthrocyte maturation.
Abstract: Klaus Schwarz and colleagues show that mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoetic anemia type II, a rare disease marked by defective cytokinesis in erythroblasts and membrane abnormalities in nucleated and peripheral red blood cells.
247 citations
TL;DR: The association of Sweet syndrome with chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia in this family suggests that these rare conditions may be interrelated.
203 citations
TL;DR: In five patients (including two sisters) an unusual anaemia was characterized by erythroblastic multinuclearity, ineffective erythropoiesis and a positive acidified‐serum test and the sugar‐water test was always negative in these patients.
Abstract: Summary.
In five patients (including two sisters) an unusual anaemia was characterized by erythroblastic multinuclearity, ineffective erythropoiesis and a positive acidified-serum test. Unlike PNH, the sugar-water test was always negative in these patients. The lysis of their cells by acidified normal sera indicated their abnormal sensitivity to an agglutinating and complement-binding antibody present in some normal subjects. The patients cells gave high agglutination scores with anti-i, and were unusually susceptible to lysis by anti-i and anti-I. The disorder is apparently inherited as an autosomal recessive character.
198 citations
Journal Article•
188 citations
TL;DR: The study of this disease-causing mutation in KLF1 provides further insights into the roles of this transcription factor during erythropoiesis in humans.
Abstract: The congenital dyserythropoietic anemias (CDAs) are inherited red blood cell disorders whose hallmarks are ineffective erythropoiesis, hemolysis, and morphological abnormalities of erythroblasts in bone marrow. We have identified a missense mutation in KLF1 of patients with a hitherto unclassified CDA. KLF1 is an erythroid transcription factor, and extensive studies in mouse models have shown that it plays a critical role in the expression of globin genes, but also in the expression of a wide spectrum of genes potentially essential for erythropoiesis. The unique features of this CDA confirm the key role of KLF1 during human erythroid differentiation. Furthermore, we show that the mutation has a dominant-negative effect on KLF1 transcriptional activity and unexpectedly abolishes the expression of the water channel AQP1 and the adhesion molecule CD44. Thus, the study of this disease-causing mutation in KLF1 provides further insights into the roles of this transcription factor during erythropoiesis in humans.
180 citations