{"id":122000,"date":"2026-01-08T13:49:07","date_gmt":"2026-01-08T04:49:07","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122000"},"modified":"2026-03-03T16:19:12","modified_gmt":"2026-03-03T07:19:12","slug":"hemochromatosis-type-2a-hfe2","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hemochromatosis-type-2a-hfe2\/","title":{"rendered":"\u82e5\u5e74\u6027\u30d8\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b9\uff08HFE2\u95a2\u9023\uff09"},"content":{"rendered":"\n

\u6982\u8981<\/strong><\/h2>\n\n\n\n

\u82e5\u5e74\u6027\u30d8\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b9\uff08Juvenile Hemochromatosis, Type 2A\uff09\u306f\u3001\u9244\u4ee3\u8b1d\u3092\u5236\u5fa1\u3059\u308b\u30db\u30eb\u30e2\u30f3\u3067\u3042\u308b\u30d8\u30d7\u30b7\u30b8\u30f3\u306e\u7523\u751f\u3084\u8abf\u7bc0\u306b\u95a2\u4e0e\u3059\u308bHFE2\uff08\u5225\u540dHJV\uff1a\u30d8\u30e2\u30b8\u30e5\u30d9\u30ea\u30f3\uff09\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u3001\u91cd\u75c7\u578b\u306e\u907a\u4f1d\u6027\u9244\u904e\u5270\u75c7\u3067\u3059\u3002\u901a\u5e38\u306e\u30d8\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b9\uff08HFE\u95a2\u9023\uff09\u3088\u308a\u3082\u65e9\u671f\u306b\u3001\u601d\u6625\u671f\u301c\u82e5\u5e74\u6210\u4eba\u671f\u304b\u3089\u9244\u904e\u5270\u304c\u9032\u884c\u3057\u3001\u809d\u81d3\u3001\u5fc3\u81d3\u3001\u81b5\u81d3\u3001\u5185\u5206\u6ccc\u81d3\u5668\u306a\u3069\u306b\u9244\u6c88\u7740\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n

\u9244\u306e\u904e\u5270\u84c4\u7a4d\u306f\u81d3\u5668\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u672a\u6cbb\u7642\u306e\u5834\u5408\u3001\u5fc3\u7b4b\u75c7\u3001\u4e0d\u6574\u8108\u3001\u809d\u786c\u5909\u3001\u7cd6\u5c3f\u75c5\u3001\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u306a\u3069\u306e\u91cd\u7be4\u306a\u5408\u4f75\u75c7\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u9664\u9244\u6cbb\u7642\u306b\u3088\u308a\u4e88\u5f8c\u306e\u6539\u5584\u304c\u53ef\u80fd\u3067\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u75ab\u5b66<\/strong><\/h2>\n\n\n\n

\u82e5\u5e74\u6027\u30d8\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b9\u306f\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3\u3067\u3001\u4e16\u754c\u7684\u306b\u6570\u767e\u4f8b\u672a\u6e80\u306e\u5831\u544a\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002\u6b63\u78ba\u306a\u6709\u75c5\u7387\u306f\u4e0d\u660e\u3067\u3059\u304c\u3001\u6b27\u5dde\u3001\u5730\u4e2d\u6d77\u6cbf\u5cb8\u8af8\u56fd\u3001\u4e2d\u6771\u3001\u30a4\u30f3\u30c9\u306a\u3069\u3067\u6563\u767a\u7684\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

\u539f\u56e0<\/strong><\/h2>\n\n\n\n

\u672c\u75be\u60a3\u306fHFE2\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002HFE2\u907a\u4f1d\u5b50\u306f\u30d2\u30c81\u756a\u67d3\u8272\u4f53\uff081q21\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30d8\u30e2\u30b8\u30e5\u30d9\u30ea\u30f3\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u30d8\u30e2\u30b8\u30e5\u30d9\u30ea\u30f3\u306f\u809d\u81d3\u3067\u306e\u30d8\u30d7\u30b7\u30b8\u30f3\u7523\u751f\u3092\u4fc3\u9032\u3059\u308b\u91cd\u8981\u306a\u8abf\u7bc0\u56e0\u5b50\u3067\u3042\u308a\u3001\u305d\u306e\u6b20\u640d\u306b\u3088\u308a\u30d8\u30d7\u30b7\u30b8\u30f3\u5206\u6ccc\u304c\u4f4e\u4e0b\u3057\u307e\u3059\u3002\u30d8\u30d7\u30b7\u30b8\u30f3\u306f\u5c0f\u8178\u304b\u3089\u306e\u9244\u5438\u53ce\u3068\u30de\u30af\u30ed\u30d5\u30a1\u30fc\u30b8\u304b\u3089\u306e\u9244\u653e\u51fa\u3092\u6291\u5236\u3059\u308b\u30db\u30eb\u30e2\u30f3\u3067\u3042\u308b\u305f\u3081\u3001\u30d8\u30d7\u30b7\u30b8\u30f3\u6b20\u4e4f\u306b\u3088\u308a\u904e\u5270\u306a\u9244\u5438\u53ce\u3068\u9244\u653e\u51fa\u304c\u8d77\u3053\u308a\u3001\u5168\u8eab\u6027\u9244\u904e\u5270\u72b6\u614b\u3068\u306a\u308a\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002(malacards.org)<\/p>\n\n\n\n

\u75c7\u72b6<\/strong><\/h2>\n\n\n\n

\u75c7\u72b6\u306f\u601d\u6625\u671f\u301c\u82e5\u5e74\u6210\u4eba\u671f\u304b\u3089\u51fa\u73fe\u3057\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u521d\u671f\u75c7\u72b6<\/strong><\/p>\n\n\n\n

    \n
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      \n
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    • \u7cd6\u5c3f\u75c5\uff08\u81b5\u81d3\u9244\u6c88\u7740\uff09<\/li>\n\n\n\n
    • \u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\uff08\u7121\u6708\u7d4c\u3001\u6027\u6b32\u4f4e\u4e0b\u3001\u4e0d\u598a\uff09<\/li>\n\n\n\n
    • \u76ae\u819a\u8272\u7d20\u6c88\u7740<\/li>\n<\/ul>\n\n\n\n

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      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n

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      1. \u81e8\u5e8a\u6240\u898b<\/strong><\/p>\n\n\n\n

        \n
      • \u82e5\u5e74\u767a\u75c7\u306e\u809d\u969c\u5bb3\u30fb\u5fc3\u969c\u5bb3\u30fb\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b<\/li>\n<\/ul>\n\n\n\n

        2. \u8840\u6db2\u691c\u67fb<\/strong><\/p>\n\n\n\n

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        • \u30d5\u30a7\u30ea\u30c1\u30f3\u9ad8\u5024<\/li>\n\n\n\n
        • \u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30ea\u30f3\u98fd\u548c\u5ea6\u4e0a\u6607<\/li>\n<\/ul>\n\n\n\n

          3. \u753b\u50cf\u691c\u67fb<\/strong><\/p>\n\n\n\n

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          • MRI\u3067\u809d\u30fb\u5fc3\u306e\u9244\u6c88\u7740\u8a55\u4fa1<\/li>\n<\/ul>\n\n\n\n

            4. \u907a\u4f1d\u5b50\u8a3a\u65ad<\/strong><\/p>\n\n\n\n

              \n
            • HFE2\u907a\u4f1d\u5b50\u89e3\u6790\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad (PMC)<\/li>\n<\/ul>\n\n\n\n

              \u6cbb\u7642<\/strong><\/h2>\n\n\n\n

              \u6cbb\u7642\u306e\u57fa\u672c\u306f\u9244\u9664\u53bb\u3067\u3059\u3002<\/p>\n\n\n\n

                \n
              • \u5b9a\u671f\u7684\u7009\u8840\u7642\u6cd5<\/li>\n\n\n\n
              • \u9244\u30ad\u30ec\u30fc\u30c8\u7642\u6cd5\uff08\u91cd\u75c7\u4f8b\uff09<\/li>\n\n\n\n
              • \u5fc3\u4e0d\u5168\u30fb\u5185\u5206\u6ccc\u969c\u5bb3\u306e\u7ba1\u7406<\/li>\n\n\n\n
              • \u9244\u6442\u53d6\u5236\u9650<\/li>\n<\/ul>\n\n\n\n

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                \n\n\n\n

                \u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n

                \u82e5\u5e74\u6027\u30d8\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b9\uff08HFE2\uff09\u2014 \u907a\u4f1d\u5b50\u75be\u60a3\u89e3\u8aac\u30da\u30fc\u30b8\uff08\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\uff09\u3088\u308a\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)
                Papanikolaou G et al. Mutations in HJV cause juvenile hemochromatosis. Nat Genet. 2004.(Nature)
                Juvenile Hemochromatosis \u2014 GeneReviews, PubMed Central.(PMC)
                Hemochromatosis Type 2A \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-122000","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122000","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122000\/revisions"}],"predecessor-version":[{"id":125281,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122000\/revisions\/125281"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122000"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}