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

• Published in: Internal Medicine Vol. 51; no. 8; pp. 917 - 920
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Society of Internal Medicine 01.01.2012
• Subjects: Adult; Anemia, Dyserythropoietic, Congenital - blood; Anemia, Dyserythropoietic, Congenital - genetics; Antimicrobial Cationic Peptides - blood; Asian Continental Ancestry Group - genetics; congenital dyserythropoietic anemia; Glycoproteins - genetics; growth differentiation factor-15; hemochromatosis; hepcidin; Hepcidins; Humans; iron metabolism; Male; Mutation - genetics
• ISSN: 0918-2918; 1349-7235
• DOI: 10.2169/internalmedicine.51.6978

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.