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Article

A case of congenital dyserythropoietic anemia type 1 in a Japanese adult with a CDAN1 gene mutation and an inappropriately low serum hepcidin-25 level.

Internal medicine (Tokyo, Japan) - 1 Jan 2012

Kawabata Hiroshi, Doisaki Sayoko, Okamoto Akio, Uchiyama Tatsuki, Sakamoto Soichiro, Hama Asahito, Hosoda Kiminori, Fujikura Junji, Kanno Hitoshi, Fujii Hisaichi, Tomosugi Naohisa, Nakao Kazuwa, Kojima Seiji, Takaori-Kondo Akifumi

Abstract excerpt

We describe the first case of genetically diagnosed congenital dyserythropoietic anemia (CDA) type 1 in a Japanese man. The patient had hemolytic anemia since he was a child, and he developed diabetes, hypogonadism, and liver dysfunction in his thirties, presumably from systemic iron overload. When he was 48 years old a diagnosis was finally made by genetic analysis that revealed a homozygous mutation of CDAN1...

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Share to Anemia, Dyserythropoietic, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22504250
DOI: 10.2169/internalmedicine.51.6978

Genes

CDA
CDAN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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