Congenital dyserythropoietic anemia type I

Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.

Jaundice

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


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PMID (PMCID)
29599085
 MIXED_SAMPLE Infant, Newborn
Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations.
Meznarich JA, Draper L, Christensen RD, Yaish HM, Luem ND, Pysher TJ, Jung G, Nemeth E, Ganz T, Ward DM.
Blood Cells Mol Dis. 2018;71:63-66.
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.