Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

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.

Hepatosplenomegaly

Simultaneous enlargement of the liver and spleen.

Total: 1

(per page)

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.