Fetal Presentation of Congenital Dyserythropoietic Anemia Type 1 with Novel Compound Heterozygous CDAN1 Mutations

Overview

Journal Blood Cells Mol Dis

Specialty Hematology

Date 2018 Mar 31

PMID 29599085

Citations 4

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

Affiliations

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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.

Citing Articles

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[Whole exome sequencing analysis of compound heterozygous variants of CDAN1 gene in a Chinese family with non-immune hydrops fetalis].

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