Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene

Chizu Koyama, Hisao Hayashi, Shinya Wakusawa, Toshio Ueno, Motoyoshi Yano, Yoshiaki Katano, Hidemi Goto, Ryuichi Kidokoro

Research output: Contribution to journalArticlepeer-review

45 Citations (Scopus)

Abstract

Hemochromatosis is a genetically heterogeneous condition. Mutations in the recently described hemojuvelin gene were found in patients with juvenile hemochromatosis, who usually manifest clinical signs of iron overload, including cardiomyopathy and hypogonadism, in their teens and early 20s. In this report, we describe three Japanese patients who showed typical clinical and hepatic histological damage compatible with hemochromatosis at around 50 years of age. Genetic analyses showed that all three patients carried mutations in the hemojuvelin gene. The first patient was homozygous for a novel mutation (745G>C [D249H]), and the second and third patients from the same family were homozygous for another novel mutation (934C>T [Q312X]). No mutations in their HFE, hepcidin, transferrin receptor 2, or ferroportin genes were found. One patient had chronic infection with Helicobacter pylori. The age at initial presentation of hemojuvelin-hemochromatosis occurs over a wider range than previously described.

Original languageEnglish
Pages (from-to)740-742
Number of pages3
JournalJournal of Hepatology
Volume43
Issue number4
DOIs
Publication statusPublished - 01-10-2005
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Hepatology

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