菅野　仁    Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine    Position   Professor (Fixed Term)
Article types	Case report
Language	English
Peer review	Peer reviewed
Title	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.
Journal	Formal name：Internal medicine (Tokyo, Japan) Abbreviation：Intern Med ISSN code：1349-7235(Electronic)0918-2918(Linking)
Volume, Issue, Page	51(8),pp.917-20
Author and coauthor	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
Publication date	2012/06
Summary	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 gene (Pro1129Leu). His serum hepcidin-25 level was inappropriately low. We conclude that physicians should be aware of the possibility of CDA in a patient with anemia and systemic iron overload at any age.
Document No.	22504250