A case of congenital dyserythropoietic anemia type IV.

Silvia de-la-Iglesia-IñigoMaría-Isabel Moreno-CarraleroAngelina Lemes-CastellanoTeresa Molero-LabartaManuel MéndezMaría-José Morán-Jiménez

Published in: Clinical case reports (2017)

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.

Keyphrases

end stage renal disease
chronic kidney disease
ejection fraction
newly diagnosed
genome wide
gene expression
patient reported outcomes
bioinformatics analysis