Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8648034 | Blood Cells, Molecules, and Diseases | 2018 | 19 Pages |
Abstract
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 biallelic pathogenic variants in CDAN1 or C15orf41. This case report documents a severe fetal presentation of CDA1 where we identified two novel compound heterozygous mutations in CDAN1 and describes the associated pathologic findings and levels of iron-regulatory proteins hepcidin, erythroferrone, and GDF15.
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Authors
Jessica A. Meznarich, Lauren Draper, Robert D. Christensen, Hassan M. Yaish, Nick D. Luem, Theodore J. Pysher, Grace Jung, Elizabeta Nemeth, Tomas Ganz, Diane M. Ward,