Clinical and genetic features of congenital dyserythropoietic anemia (<scp>CDA</scp>)

Moreno-Carralero, María-Isabel; Horta-Herrera, Saul; Morado‐Arias, Marta; Ricard-Andrés, María-Pilar; Lemes-Castellano, Angelina; Abio-Calvete, Mariola; Cedena-Romero, María-Teresa; González-Fernández, Fernando-Ataúlfo; Llorente-González, Laura; Periago-Peralta, Adela-María; Iglesia, Silvia de la; Méndez, Manuel; Morán-Jiménez, María-Josefa

doi:10.1111/ejh.13112

Cited by 17 publications

(12 citation statements)

References 65 publications

(198 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In that case, CDAs should be sought in case of jaundice associated with macro- or normocytic anemia, especially if associated with a suboptimal reticulocyte response, splenomegaly, and/or congenital skeleton malformations, particularly of the hands and feet with syndactyly, polydactyly, and dysplastic nails, in a neonate with a history of IUGR [ 3 , 54 , 55 ]. CDAs are rare disorders, with a reported incidence of 0.5 cases per million people, probably underdiagnosed due to clinical heterogeneity or misdiagnosis [ 56 ]. Traditionally, three major types of CDAs (types I, II, III) have been identified basing on morphological abnormalities of bone marrow erythroblasts [ 3 ].…”

Section: Approach To the Chas In Newbornsmentioning

confidence: 99%

Severe Presentation of Congenital Hemolytic Anemias in the Neonatal Age: Diagnostic and Therapeutic Issues

et al. 2021

View full text Add to dashboard Cite

Congenital hemolytic anemias (CHAs) are a group of diseases characterized by premature destruction of erythrocytes as a consequence of intrinsic red blood cells abnormalities. Suggestive features of CHAs are anemia and hemolysis, with high reticulocyte count, unconjugated hyperbilirubinemia, increased lactate dehydrogenase (LDH), and reduced haptoglobin. The peripheral blood smear can help the differential diagnosis. In this review, we discuss the clinical management of severe CHAs presenting early on in the neonatal period. Appropriate knowledge and a high index of suspicion are crucial for a timely differential diagnosis and management. Here, we provide an overview of the most common conditions, such as glucose-6-phosphate dehydrogenase deficiency, pyruvate kinase deficiency, and hereditary spherocytosis. Although rare, congenital dyserythropoietic anemias are included as they may be suspected in early life, while hemoglobinopathies will not be discussed, as they usually manifest at a later age, when fetal hemoglobin (HbF) is replaced by the adult form (HbA).

show abstract

Section: Approach To the Chas In Newbornsmentioning

confidence: 99%

Severe Presentation of Congenital Hemolytic Anemias in the Neonatal Age: Diagnostic and Therapeutic Issues

et al. 2021

View full text Add to dashboard Cite

show abstract

“…Through large-scale mutagenesis, several models of human anemias have been established in zebrafish, enabling to better understand the pathogenesis and develop novel treatments for this disease. Congenital dyserythropoietic anemias are rare hereditary disorders characterized by anemia, inefficient erythropoiesis and abnormal erythroblasts and erythrocytes, being one of the human diseases studied in zebrafish (Moreno-Carralero et al, 2018). Retsina mutant (ret) used for studying this disease has a specific defect in cell division associated with dyserythropoiesis.…”

Section: Fish Models For Erythrocyte Diseasesmentioning

confidence: 99%

The contribution of fish models in understanding of blood disorders

Ristea¹,

Zarnescu²

2020

Rev. Biol. Biomed. Sci.

View full text Add to dashboard Cite

Human and fish peripheral blood contains erythrocytes or red blood cells, leukocytes or white blood cells and platelets or thrombocytes. Although the fish present the same types of blood cells as humans, studies have highlighted some morphological, ultrastructural and cytochemical differences in blood cells of the two groups of vertebrates. In both human and fish hematological tests are indispensable tools which provide a considerable amount of useful information for evaluation of the general state of health. Although there are limited amount of studies on blood cells in fish, over the years especially Danio rerio, has become an powerful model organism for studying human hematological diseases, as anemia, leukemia, myeloproliferative diseases and others human hematological diseases. Thereby, fish are ideal model organisms for studying hematological diseases due to external fertilization, brief development time, large number of embryos and the results can be extrapolated to mammals, including human. Furthermore, ikaros, rag-1, rag-2 and lck genes that are found in human were observed in Danio rerio revealing the spatio-temporal proximity between these groups of vertebrates. Therefore, studies realized on fish can offer essential information about molecular mechanism which causes the appearance of numerous human hematological diseases and discovery of possible therapeutic methods. This review provides a comparative overview of blood cells in fish and humans and describes zebrafish mutants as models of human hematologic disorders.

show abstract

“…Based on the typical morphology of bone marrow erythroblasts and the identification of the causative genes, CDAs have been classified into four types (Table ). Skeletal abnormalities (acral dysostosis) affecting mainly the distal limbs are a rare feature observed in about 10% of patients with CDA Type I .…”

Section: Congenital Dyserythropoietic Anaemiasmentioning

confidence: 99%