Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations.
Blood Cells Mol Dis
; 71: 63-66, 2018 07.
Article
em En
| MEDLINE
| ID: mdl-29599085
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Glicoproteínas
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Predisposição Genética para Doença
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Estudos de Associação Genética
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Heterozigoto
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Anemia Diseritropoética Congênita
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Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adult
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Female
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Humans
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Male
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Newborn
Idioma:
En
Revista:
Blood Cells Mol Dis
Ano de publicação:
2018
Tipo de documento:
Article