TY - JOUR
T1 - Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis
AU - Hattori, Ai
AU - Tomosugi, Naohisa
AU - Tatsumi, Yasuaki
AU - Suzuki, Ayami
AU - Hayashi, Kazuhiko
AU - Katano, Yoshiaki
AU - Inagaki, Yasutaka
AU - Ishikawa, Tetsuya
AU - Hayashi, Hisao
AU - Goto, Hidemi
AU - Wakusawa, Shinya
PY - 2012/3/15
Y1 - 2012/3/15
N2 - Hepcidin is an iron-regulatory hepatic peptide hormone encoded by the HAMP gene that downregulates iron export from enterocytes and macrophages into the blood plasma. In this study, we identified a novel mutation in the HAMP gene of a 58-year-old Japanese male patient with hemochromatosis. By direct sequencing of the five hereditary hemochromatosis-related genes, HFE, HAMP, HJV, TFR2, and SLC40A1, the previously unreported p.R75X mutation was identified, and the patient was found to be homozygous for the mutation. No other potentially pathogenic mutations were detected. In an LC-MS/MS analysis, hepcidin molecules were not detected in the patient's serum or urine. These results indicate that the p.R75X mutation causes iron overload by impairing the hepcidin system.
AB - Hepcidin is an iron-regulatory hepatic peptide hormone encoded by the HAMP gene that downregulates iron export from enterocytes and macrophages into the blood plasma. In this study, we identified a novel mutation in the HAMP gene of a 58-year-old Japanese male patient with hemochromatosis. By direct sequencing of the five hereditary hemochromatosis-related genes, HFE, HAMP, HJV, TFR2, and SLC40A1, the previously unreported p.R75X mutation was identified, and the patient was found to be homozygous for the mutation. No other potentially pathogenic mutations were detected. In an LC-MS/MS analysis, hepcidin molecules were not detected in the patient's serum or urine. These results indicate that the p.R75X mutation causes iron overload by impairing the hepcidin system.
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U2 - 10.1016/j.bcmd.2012.01.002
DO - 10.1016/j.bcmd.2012.01.002
M3 - Article
C2 - 22297252
AN - SCOPUS:84857642455
SN - 1079-9796
VL - 48
SP - 179
EP - 182
JO - Blood Cells, Molecules, and Diseases
JF - Blood Cells, Molecules, and Diseases
IS - 3
ER -