Congenital dyserythropoietic anemia type IV

Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.

Jaundice

Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.


Total: 1

                      


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PMID (PMCID)
25724378
MIXED_SAMPLE Infant, Newborn
KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome.
Magor GW, Tallack MR, Gillinder KR, Bell CC, McCallum N, Williams B, Perkins AC.
Blood. 2015;125(15):2405-17.
The phenotype of severe nonspherocytic hemolytic anemia, jaundice, hepatosplenomegaly, and marked erythroblastosis is more severe than that present in congenital dyserythropoietic anemia type IV as a result of dominant mutations in the second zinc-finger of KLF1.