.BETA.+-Thalassemia with Hemochromatosis.

DOI Web Site PubMed 被引用文献2件
  • UCHIHARA Masakatsu
    the Department of Internal Medicine, Hokushin General Hospital the Second Department of Internal Medicine, Tokyo Medical and Dental University
  • NOUCHI Toshihiko
    the Second Department of Internal Medicine, Tokyo Medical and Dental University
  • HARANO Teruo
    the Department of Biochemistry, Kawasaki Medical School
  • YAMANE Michio
    the Department of Internal Medicine, Hokushin General Hospital
  • SAKAI Hideki
    the Department of Internal Medicine, Hokushin General Hospital
  • TAKABE Kazuhiko
    the Department of Internal Medicine, Hokushin General Hospital
  • MAE Sunao
    the Department of Internal Medicine, Hokushin General Hospital
  • MAEKAWA Shinya
    the Department of Internal Medicine, Hokushin General Hospital
  • FUKUMA Toshiko
    the Department of Internal Medicine, Hokushin General Hospital
  • MIYAHARA Yasuhiro
    the Department of Internal Medicine, Hokushin General Hospital
  • SATO Chifumi
    the Second Department of Internal Medicine, Tokyo Medical and Dental University the Division of Health Science, Tokyo Medical and Dental University
  • MARUMO Fumiaki
    the Second Department of Internal Medicine, Tokyo Medical and Dental University

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抄録

A 64-year-old man was admitted due to ascites. Laboratory data showed hemoglobin 6.7g/dl, mean corpuscular volume 82fl, and ferritin 2, 360ng/ml. Liver biopsy showed hemochromatosis. The diagnosis of β-halassemia was suggested by a decreased ratio of β/α-globin synthesis in vitro (0.26). Cloning of the β-globin gene showed A-to-G mutation in the first base of the ATA box. He was confirmed to be homozygous for this specific allele by β-gene complex analysis and analysis of Southern blot hybridization of the a- and β-globin genes. His two sons were confirmed to be heterozygous for this allele.<br>(Internal Medicine 31 : 1060-1064, 1992)

収録刊行物

  • Internal Medicine

    Internal Medicine 31 (8), 1060-1064, 1992

    一般社団法人 日本内科学会

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