Open AccessA case of congenital dyserythropoietic anemia type IV
Author(s) -
Iglesia Iñigo Silvia,
MorenoCarralero MaríaIsabel,
LemesCastellano Angelina,
MoleroLabarta Teresa,
Méndez Manuel,
MoránJiménez MaríaJosé
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.825
Subject(s) - medicine , ineffective erythropoiesis , erythropoiesis , anemia , phenotype , differential diagnosis , pediatrics , bioinformatics , pathology , genetics , gene , biology
Key Clinical Message Congenital dyserythropoietic anemias (CDAs) are displayed by ineffective erythropoiesis. The wide variety of phenotypes observed in CDA patients makes differential diagnosis difficult; identification of the genetic variants is crucial in clinical management. We report the fifth case of a patient with unclassified CDAs, after genetic study, with CDA type IV.