Congenital Dyserythropoietic Anemia Type IV with KLF1 E325K Mutation --

Abstract

Congenital Dyserythropoietic Anemia Type IV (CDA-IV) is still an emerging new disease with approximately 10 cases reported over the past three decades. CDA-IV is known to be caused by a specific mutation in exon 3 of KLF1, an erythroid transcription factor KLF1 with substitution of glutamic acid with lysine at residue 325 (KLF1 E325K). Because of the rarity of this disorder the presenting features are incompletely defined; especially the non-erythroid comorbidities. Here we report a new case, a male child, presenting with fetal hydrops and dysmorphic external genitalia.