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.
abstract: 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.
authors.affiliation: Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University, Japan. hkawabat@kuhp.kyoto-u.ac.jp
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kawabata
authors.forename: Sayoko
authors.initials: S
authors.lastname: Doisaki
authors.forename: Akio
authors.initials: A
authors.lastname: Okamoto
authors.forename: Tatsuki
authors.initials: T
authors.lastname: Uchiyama
authors.forename: Soichiro
authors.initials: S
authors.lastname: Sakamoto
authors.forename: Asahito
authors.initials: A
authors.lastname: Hama
authors.forename: Kiminori
authors.initials: K
authors.lastname: Hosoda
authors.forename: Junji
authors.initials: J
authors.lastname: Fujikura
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Kanno
authors.forename: Hisaichi
authors.initials: H
authors.lastname: Fujii
authors.forename: Naohisa
authors.initials: N
authors.lastname: Tomosugi
authors.forename: Kazuwa
authors.initials: K
authors.lastname: Nakao
authors.forename: Seiji
authors.initials: S
authors.lastname: Kojima
authors.forename: Akifumi
authors.initials: A
authors.lastname: Takaori-Kondo
mesh_terms: D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000097:blood* / Q000235:genetics*; D023181:Antimicrobial Cationic Peptides / Q000097:blood*; D044466:Asian People / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D064451:Hepcidins; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins
chemical_list: D023181:Antimicrobial Cationic Peptides; C470477:CDAN1 protein, human; D006023:Glycoproteins; D064451:Hepcidins; D009687:Nuclear Proteins; C545475:hepcidin 25, human