1. Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations
- Author
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Meznarich, Jessica A, Draper, Lauren, Christensen, Robert D, Yaish, Hassan M, Luem, Nick D, Pysher, Theodore J, Jung, Grace, Nemeth, Elizabeta, Ganz, Tomas, and Ward, Diane M
- Subjects
Reproductive Medicine ,Biomedical and Clinical Sciences ,Hematology ,Pediatric ,Rare Diseases ,Clinical Research ,Adult ,Anemia ,Dyserythropoietic ,Congenital ,Biomarkers ,Biopsy ,Bone Marrow ,Female ,Genetic Association Studies ,Genetic Predisposition to Disease ,Glycoproteins ,Heterozygote ,Humans ,Infant ,Newborn ,Male ,Mutation ,Nuclear Proteins ,Congenital dyserythropoietic anemia ,CDAN1 mutations ,Hepcidin ,Erythroferrone ,GDF15 ,Clinical Sciences ,Immunology ,Cardiovascular medicine and haematology - 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.
- Published
- 2018