New Cases and Mutations in <i>SEC23B</i> Gene Causing Congenital Dyserythropoietic Anemia Type II

New Cases and Mutations in <i>SEC23B</i> Gene Causing Congenital Dyserythropoietic Anemia Type II

Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective erythropoiesis conditions. It is characterized by mild to severe normocytic anemia, jaundice, and splenomegaly owing to the hemolytic component. This...

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Bibliographic Details
Main Authors: Melina Mara Musri, Veronica Venturi, Xènia Ferrer-Cortès, Lídia Romero-Cortadellas, Gonzalo Hernández, Pilar Leoz, María Pilar Ricard Andrés, Marta Morado, María del Carmen Fernández Valle, David Beneitez Pastor, Ana Ortuño Cabrero, Maite Moreno Gamiz, Leonor Senent Peris, Amanda Isabel Perez-Valencia, Santiago Pérez-Montero, Cristian Tornador, Mayka Sánchez
Format: Article
Language:English
Published: MDPI AG 2023-06-01
Series:International Journal of Molecular Sciences
Subjects:
congenital dyserythropoietic anemia
CDA type II
SEC23B
hereditary anemias
ineffective erythropoiesis
rare blood disease
Online Access:https://www.mdpi.com/1422-0067/24/12/9935

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