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Article

Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations.

Blood cells, molecules & diseases - 1 Jul 2018

Meznarich Jessica A, Draper Lauren, Christensen Robert D, Yaish Hassan M, Luem Nick D, Pysher Theodore J, Jung Grace, Nemeth Elizabeta, Ganz Tomas, Ward Diane M

Abstract excerpt

The congenital dyserythropoietic anemias are a heterogeneous group of disorders characterized by anemia and ineffective erythropoiesis. Congenital dyserythropoietic anemia type I (CDA1) can present in utero with hydrops fetalis, but more often it presents in childhood or adulthood with moderate macrocytic anemia, jaundice, and progressive iron-overload. CDA1 is inherited in an autosomal recessive manner, with...

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Identifiers

PMID: 29599085
DOI: 10.1016/j.bcmd.2018.03.002
PMCID: PMC5947870

Genes

CDAN1
GDF15

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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