title: AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis.
abstract: The majority of Caucasian patients with hemochromatosis are homozygous for C282Y mutation of the HFE gene. In contrast to its high prevalence in Caucasians, hemochromatosis is a rare disorder in Japan. This may be due to the low prevalence of the C282Y mutation of the HFE gene in Japanese. Recent reports suggest that the mutations of transferrin receptor 2 (TfR2) gene may be involved in non-HFE hemochromatosis. Therefore, we investigated the TfR2 gene of 6 sporadic and 5 familiar cases of Japanese hemochromatosis. Three siblings in one family were found to be homozygous for an AVAQ 594-597 deletion. All three had severe iron deposits in the hepatocytes and bile ducts, but none was affected by diabetes mellitus. This mutation was not detected in 100 control individuals. Further study was undertaken to investigate whether the large deletion of the TfR2 gene is the mutation responsible for some of the Japanese hemochromatosis cases.
authors.affiliation: Department of Medicine, Faculty of Pharmaceutical Sciences of Hokuriku University, Ho 3, Kanagawa-machi, Ishikawa 920-1181, Kanazawa, Japan
authors.forename: Ai
authors.initials: A
authors.lastname: Hattori
authors.forename: Shinnya
authors.initials: S
authors.lastname: Wakusawa
authors.forename: Hisao
authors.initials: H
authors.lastname: Hayashi
authors.forename: Ai
authors.initials: A
authors.lastname: Harashima
authors.forename: Fujiko
authors.initials: F
authors.lastname: Sanae
authors.forename: Miwa
authors.initials: M
authors.lastname: Kawanaka
authors.forename: Gohtaro
authors.initials: G
authors.lastname: Yamada
authors.forename: Motoyashi
authors.initials: M
authors.lastname: Yano
authors.forename: Kenntaro
authors.initials: K
authors.lastname: Yoshioka