{"id":60141,"date":"2023-08-24T12:29:08","date_gmt":"2023-08-24T03:29:08","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=60141"},"modified":"2026-05-08T12:35:11","modified_gmt":"2026-05-08T03:35:11","slug":"hereditary-haemochromatosis","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hereditary-haemochromatosis\/","title":{"rendered":"\u30d8\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b93\u578b\uff08TFR2\u95a2\u9023\uff09"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u30d8\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b93\u578b\uff08TFR2\u95a2\u9023\uff09\u306f\u3001TFR2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u9244\u306e\u6052\u5e38\u6027\u304c\u4e71\u308c\u3001\u809d\u81d3\u3084\u5fc3\u81d3\u3001\u81b5\u81d3\u306a\u3069\u306b\u904e\u5270\u306a\u9244\u304c\u84c4\u7a4d\u3059\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u305d\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3001\u9069\u5207\u306a\u7ba1\u7406\u65b9\u6cd5\u3092\u7d39\u4ecb\u3057\u307e\u3059\u3002\u65e9\u671f\u8a3a\u65ad\u3068\u6cbb\u7642\u306e\u91cd\u8981\u6027\u3092\u77e5\u308a\u3001\u5065\u5eb7\u7dad\u6301\u306b\u5f79\u7acb\u3066\u307e\u3057\u3087\u3046\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>TFR2\uff5cHemochromatosis, Type 3 (TFR2-related)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30d8\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b93\u578b\uff08TFR2\u95a2\u9023\uff09\u306f\u3001TFR2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u907a\u4f1d\u6027\u9244\u904e\u8ca0\u8377\u75c7\u3067\u3042\u308a\u3001\u4e3b\u306b\u809d\u81d3\u3001\u5fc3\u81d3\u3001\u81b5\u81d3\u3001\u95a2\u7bc0\u306a\u3069\u306e\u81d3\u5668\u306b\u9244\u304c\u7570\u5e38\u306b\u84c4\u7a4d\u3059\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u3002\u5178\u578b\u7684\u306a\u75c7\u72b6\u306b\u306f\u809d\u75be\u60a3\u3001\u7cd6\u5c3f\u75c5\u3001\u95a2\u7bc0\u708e\u3001\u76ae\u819a\u306e\u8272\u7d20\u6c88\u7740\u3001\u5fc3\u8840\u7ba1\u75be\u60a3\u3001\u4f4e\u30b4\u30ca\u30c9\u30c8\u30ed\u30d4\u30f3\u6027\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u304c\u542b\u307e\u308c\u308b\u3002\u672c\u75be\u60a3\u306f\u9032\u884c\u6027\u3067\u3042\u308a\u3001\u6cbb\u7642\u304c\u9045\u308c\u308b\u3068\u809d\u786c\u5909\u3084\u809d\u7d30\u80de\u764c\u306a\u3069\u306e\u6df1\u523b\u306a\u5408\u4f75\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<p>TFR2\u907a\u4f1d\u5b50\u306f\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30ea\u30f3\u53d7\u5bb9\u4f532\u3092\u30b3\u30fc\u30c9\u3057\u3001\u4f53\u5185\u306e\u9244\u6052\u5e38\u6027\u3092\u8abf\u7bc0\u3059\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u30d8\u30d7\u30b7\u30b8\u30f3\uff08HAMP\u907a\u4f1d\u5b50\u306b\u3088\u308a\u30b3\u30fc\u30c9\u3055\u308c\u308b\u9244\u8abf\u7bc0\u30db\u30eb\u30e2\u30f3\uff09\u306e\u767a\u73fe\u304c\u4f4e\u4e0b\u3057\u3001\u9244\u306e\u5438\u53ce\u304c\u5236\u5fa1\u4e0d\u80fd\u306b\u306a\u308b\u3053\u3068\u304c\u75c5\u614b\u306e\u6839\u672c\u7684\u306a\u8981\u56e0\u3067\u3042\u308b\u3002\u672c\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3067\u907a\u4f1d\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u306b\u306f\u8840\u6e05\u9244\u30de\u30fc\u30ab\u30fc\uff08\u30d5\u30a7\u30ea\u30c1\u30f3\u3001\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30ea\u30f3\u98fd\u548c\u5ea6\uff09\u3001\u809d\u81d3\u306e\u753b\u50cf\u8a3a\u65ad\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u7528\u3044\u3089\u308c\u308b\u3002\u6cbb\u7642\u306e\u7b2c\u4e00\u9078\u629e\u80a2\u306f\u7009\u8840\u7642\u6cd5\u3067\u3042\u308a\u3001\u9244\u8ca0\u8377\u3092\u4f4e\u6e1b\u3057\u3001\u81d3\u5668\u969c\u5bb3\u3092\u9632\u3050\u3053\u3068\u3092\u76ee\u7684\u3068\u3059\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>\u30d8\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b93\u578b\u306f\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u305d\u306e\u6709\u75c5\u7387\u306f100\u4e07\u4eba\u3042\u305f\u308a1\u4eba\u672a\u6e80\u3068\u63a8\u5b9a\u3055\u308c\u308b\uff08&lt;1\/1,000,000, \u4e16\u754c\u898f\u6a21\uff09\u3002\u672c\u75be\u60a3\u306e\u5831\u544a\u4f8b\u306f\u4e3b\u306b\u30e8\u30fc\u30ed\u30c3\u30d1\u306b\u96c6\u4e2d\u3057\u3066\u304a\u308a\u3001\u30a2\u30b8\u30a2\u4eba\u3067\u306f\u975e\u5e38\u306b\u7a00\u3067\u3042\u308b\u3002TFR2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u30d8\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b9\u306f\u907a\u4f1d\u7684\u6d78\u900f\u7387\u304c100%\u3067\u306f\u306a\u304f\u3001\u74b0\u5883\u8981\u56e0\uff08\u6162\u6027\u809d\u708e\u3001\u4f4e\u9244\u98df\u3001\u6162\u6027\u51fa\u8840\uff09\u3084\u907a\u4f1d\u7684\u8981\u56e0\uff08\u30d8\u30e2\u30b0\u30ed\u30d3\u30ce\u30d1\u30b7\u30fc\u306a\u3069\uff09\u306e\u5f71\u97ff\u3092\u53d7\u3051\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u6700\u5e74\u9577\u306e\u767a\u75c7\u4f8b\u306f82\u6b73\u306e\u60a3\u8005\u3067\u3042\u308a\uff08Roetto et al., 2001\uff09\u3001\u6700\u5e74\u5c11\u306e\u767a\u75c7\u4f8b\u306f2\u6b73\u306e\u5c0f\u5150\u3067\u3042\u3063\u305f\uff08Khayat et al., 2019\uff09\u3002\u4e00\u65b9\u3067\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u4f4e\u9244\u98df\u3084\u6708\u7d4c\u904e\u591a\u3001\u6162\u6027\u80c3\u708e\uff08Helicobacter pylori\u95a2\u9023\uff09\u306b\u3088\u308b\u9244\u6b20\u4e4f\u3092\u793a\u3059\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u308b\uff08Girelli et al., 2002\uff09\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>TFR2\u907a\u4f1d\u5b50\uff087q22.1\uff09\u306e\u30db\u30e2\u63a5\u5408\u307e\u305f\u306f\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u5909\u7570\u304c\u672c\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u3002TFR2\u306f\u809d\u81d3\u3084\u9aa8\u9ac4\u306e\u8d64\u82bd\u7403\u306b\u767a\u73fe\u3057\u3001\u9244\u306e\u6052\u5e38\u6027\u7dad\u6301\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u3002TFR2\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u30d8\u30d7\u30b7\u30b8\u30f3\u306e\u767a\u73fe\u304c\u6e1b\u5c11\u3057\u3001\u5341\u4e8c\u6307\u8178\u304b\u3089\u306e\u9244\u5438\u53ce\u304c\u5236\u5fa1\u4e0d\u80fd\u3068\u306a\u308b\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u904e\u5270\u306a\u9244\u304c\u4f53\u5185\u306b\u84c4\u7a4d\u3057\u3001\u69d8\u3005\u306a\u81d3\u5668\u306b\u640d\u50b7\u3092\u4e0e\u3048\u308b\u3002<\/p>\n\n\n\n<p>TFR2\u907a\u4f1d\u5b50\u5909\u7570\u306b\u95a2\u9023\u3059\u308b\u4ee3\u8868\u7684\u306a\u75c5\u7684\u5909\u7570\u306b\u306f\u4ee5\u4e0b\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>p.Arg30ProfsTer31\uff08Roetto et al., 2001\uff09<\/li>\n\n\n\n<li>p.Ser470Ile\uff08Khayat et al., 2019\uff09<\/li>\n\n\n\n<li>p.Ala621_Gln624del\uff08Girelli et al., 2002\uff09<\/li>\n\n\n\n<li>p.G446E\uff08\u65e5\u672c\u306e\u5831\u544a\u4f8b\uff09<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>\u672c\u75be\u60a3\u306e\u75c7\u72b6\u306f\u3001\u9244\u306e\u84c4\u7a4d\u304c\u9032\u884c\u3059\u308b\u306b\u3064\u308c\u3066\u73fe\u308c\u308b\u3002<\/p>\n\n\n\n<p><strong>\u521d\u671f\u75c7\u72b6:<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5026\u6020\u611f\u3001\u75b2\u52b4\u611f<\/li>\n\n\n\n<li>\u95a2\u7bc0\u75db\uff08\u7279\u306b\u7b2c2\u30fb3\u4e2d\u624b\u6307\u7bc0\u95a2\u7bc0\uff09<\/li>\n\n\n\n<li>\u8179\u75db<\/li>\n\n\n\n<li>\u6027\u6b32\u4f4e\u4e0b<\/li>\n<\/ul>\n\n\n\n<p><strong>\u9032\u884c\u3057\u305f\u5834\u5408\u306e\u75c7\u72b6:<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u809d\u75be\u60a3\uff08\u809d\u816b\u5927\u3001\u809d\u7dda\u7dad\u75c7\u3001\u809d\u786c\u5909\uff09<\/li>\n\n\n\n<li>\u7cd6\u5c3f\u75c5<\/li>\n\n\n\n<li>\u76ae\u819a\u306e\u8272\u7d20\u6c88\u7740\uff08\u300c\u30d6\u30ed\u30f3\u30ba\u7cd6\u5c3f\u75c5\u300d\uff09<\/li>\n\n\n\n<li>\u5fc3\u4e0d\u5168\uff08\u5fc3\u7b4b\u9244\u6c88\u7740\u306b\u3088\u308b\uff09<\/li>\n\n\n\n<li>\u4f4e\u30b4\u30ca\u30c9\u30c8\u30ed\u30d4\u30f3\u6027\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7<\/li>\n\n\n\n<li>\u95a2\u7bc0\u75c7\uff08\u7279\u306b\u624b\u6307\u306e\u95a2\u7bc0\uff09<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306b\u306f\u4ee5\u4e0b\u306e\u65b9\u6cd5\u304c\u7528\u3044\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<p><strong>\u8840\u6db2\u691c\u67fb:<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8840\u6e05\u30d5\u30a7\u30ea\u30c1\u30f3\u5024\uff08&gt;1000 ng\/mL\u3067\u809d\u7dda\u7dad\u5316\u306e\u30ea\u30b9\u30af\u5897\u52a0\uff09<\/li>\n\n\n\n<li>\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30ea\u30f3\u98fd\u548c\u5ea6\uff08&gt;45%\u3067\u30d8\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b9\u306e\u53ef\u80fd\u6027\u9ad8\uff09<\/li>\n\n\n\n<li>\u8840\u6e05\u9244\u30fbTIBC\uff08\u9244\u7d50\u5408\u80fd\uff09<\/li>\n\n\n\n<li>\u30d8\u30d7\u30b7\u30b8\u30f3-25\uff08\u4f4e\u5024\uff09<\/li>\n<\/ul>\n\n\n\n<p><strong>\u753b\u50cf\u8a3a\u65ad:<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8179\u90e8MRI\uff08\u809d\u81d3\u306e\u9244\u6c88\u7740\u3092T2*-weighted imaging\u3067\u8a55\u4fa1\uff09<\/li>\n\n\n\n<li>\u8179\u90e8CT\uff08\u809d\u5b9f\u8cea\u306e\u9ad8\u5438\u53ce\uff09<\/li>\n<\/ul>\n\n\n\n<p><strong>\u907a\u4f1d\u5b50\u691c\u67fb:<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>TFR2\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u3092\u540c\u5b9a<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p><strong>\u7009\u8840\u7642\u6cd5:<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7b2c\u4e00\u9078\u629e\u80a2\u3068\u3057\u3066\u3001\u5b9a\u671f\u7684\u306a\u7009\u8840\u3092\u5b9f\u65bd<\/li>\n\n\n\n<li>\u76ee\u6a19: \u8840\u6e05\u30d5\u30a7\u30ea\u30c1\u30f350\u2013100 ng\/mL\u3001\u30d8\u30e2\u30b0\u30ed\u30d3\u30f311\u201312 g\/dL<\/li>\n\n\n\n<li>\u7009\u8840\u983b\u5ea6: \u521d\u671f\u306f\u90311\u56de\u3001\u305d\u306e\u5f8c\u306f\u72b6\u614b\u306b\u5fdc\u3058\u3066\u8abf\u6574<\/li>\n<\/ul>\n\n\n\n<p><strong>\u9244\u30ad\u30ec\u30fc\u30c8\u7642\u6cd5:<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7009\u8840\u4e0d\u80fd\u4f8b\uff08\u8ca7\u8840\u5408\u4f75\u306a\u3069\uff09\u3067\u306f\u30c7\u30d5\u30a7\u30ed\u30ad\u30b5\u30df\u30f3\u3001\u30c7\u30d5\u30a7\u30e9\u30b7\u30ed\u30af\u30b9\u3092\u4f7f\u7528<\/li>\n<\/ul>\n\n\n\n<p><strong>\u751f\u6d3b\u7fd2\u6163\u306e\u7ba1\u7406:<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9244\u5206\u6442\u53d6\u5236\u9650\uff08\u7279\u306b\u30ec\u30d0\u30fc\u3001\u8d64\u8eab\u8089\u3001\u9244\u5f37\u5316\u98df\u54c1\u306e\u6442\u53d6\u5236\u9650\uff09<\/li>\n\n\n\n<li>\u30a2\u30eb\u30b3\u30fc\u30eb\u5236\u9650\uff08\u30d8\u30d7\u30b7\u30b8\u30f3\u6291\u5236\u4f5c\u7528\u306b\u3088\u308b\u9244\u5438\u53ce\u5897\u52a0\u3092\u9632\u3050\uff09<\/li>\n\n\n\n<li>\u30d3\u30bf\u30df\u30f3C\u904e\u5270\u6442\u53d6\u306e\u56de\u907f\uff08\u9244\u5438\u53ce\u4fc3\u9032\u4f5c\u7528\u304c\u3042\u308b\u305f\u3081\uff09<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5408\u4f75\u75c7\u306e\u7ba1\u7406:<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u809d\u786c\u5909\u306e\u9032\u884c\u8a55\u4fa1\uff08\u809d\u751f\u691c\u3001MRI\u306b\u3088\u308b\u9244\u6fc3\u5ea6\u6e2c\u5b9a\uff09<\/li>\n\n\n\n<li>\u7cd6\u5c3f\u75c5\u306e\u7ba1\u7406\uff08\u8840\u7cd6\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\uff09<\/li>\n\n\n\n<li>\u95a2\u7bc0\u75c7\u306e\u7ba1\u7406\uff08\u93ae\u75db\u85ac\u3001\u7406\u5b66\u7642\u6cd5\uff09<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u6cbb\u7642\uff08\u7279\u306b\u7009\u8840\u7642\u6cd5\uff09\u304c\u884c\u308f\u308c\u305f\u5834\u5408\u3001\u30d8\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b93\u578b\u306e\u4e88\u5f8c\u306f\u826f\u597d\u3067\u3042\u308a\u3001\u809d\u786c\u5909\u3084\u5fc3\u4e0d\u5168\u306e\u30ea\u30b9\u30af\u3092\u4f4e\u6e1b\u3067\u304d\u308b\u3002\u3057\u304b\u3057\u3001\u8a3a\u65ad\u306e\u9045\u308c\u3084\u6cbb\u7642\u306e\u9045\u5ef6\u304c\u3042\u308b\u3068\u3001\u809d\u786c\u5909\u3084\u809d\u7d30\u80de\u764c\u3001\u5fc3\u7b4b\u75c7\u306a\u3069\u306e\u91cd\u7be4\u306a\u5408\u4f75\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u9244\u904e\u5270\u306e\u84c4\u7a4d\u306b\u3088\u308b\u81d3\u5668\u969c\u5bb3\u306f\u4e0d\u53ef\u9006\u7684\u306a\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3001\u65e9\u671f\u306e\u4ecb\u5165\u304c\u91cd\u8981\u3067\u3042\u308b\u3002\u307e\u305f\u3001\u907a\u4f1d\u5b50\u5909\u7570\u306e\u6d78\u900f\u7387\u304c100%\u3067\u306f\u306a\u3044\u305f\u3081\u3001\u30ea\u30b9\u30af\u306e\u3042\u308b\u5bb6\u65cf\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u884c\u3044\u3001\u9069\u5207\u306a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u3092\u884c\u3046\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1111\/hepr.14079\">Tamai, Y., Hosotani, M., Shigefuku, R., Tsuboi, J., Iwasa, M., Okugawa, Y., &amp; Nakagawa, H. (2025). Novel mutation of transferrin receptor 2 causing hereditary hemochromatosis type 3 in a Japanese patient. <em>Hepatology Research<\/em>, <em>55<\/em>(1), 155\u2013160. https:\/\/doi.org\/10.1111\/hepr.14079<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/genes12121980\">Hern\u00e1ndez, G., Ferrer-Cort\u00e8s, X., Venturi, V., Musri, M., Pilquil, M. F., Torres, P. M. M., Rodr\u00edguez, I. H., M\u00ednguez, M. \u00c0. R., Kelleher, N. J., Pelucchi, S., Piperno, A., Alberca, E. P., Ric\u00f3s, G. G., Gir\u00f3, E. C., P\u00e9rez-Montero, S., Tornador, C., Vill\u00e0-Freixa, J., &amp; S\u00e1nchez, M. (2021). New mutations in hfe2 and tfr2 genes causing non hfe-related hereditary hemochromatosis. <em>Genes<\/em>, <em>12<\/em>(12), 1980. https:\/\/doi.org\/10.3390\/genes12121980<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fgene.2022.836431\">Tang, S., Bai, L., Gao, Y., Hou, W., Song, W., Liu, H., Hu, Z., Duan, Z., Zhang, L., &amp; Zheng, S. (2022). A novel mutation of transferrin receptor 2 in a chinese pedigree with type 3 hemochromatosis: A case report. <em>Frontiers in Genetics<\/em>, <em>13<\/em>, 836431. https:\/\/doi.org\/10.3389\/fgene.2022.836431<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/978-1-4471-4715-2_11\">Bergasa, N.V. (2022). Hemochromatosis. In: Bergasa, N.V. (eds) Clinical Cases in Hepatology. Springer, London. https:\/\/doi.org\/10.1007\/978-1-4471-4715-2_11<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/B978-0-12-822824-1.00039-0\">Piperno, A., Pelucchi, S., &amp; Mariani, R. (2024). Molecular testing in hemochromatosis. In <em>Diagnostic Molecular Pathology<\/em> (pp. 267\u2013281). Elsevier. https:\/\/doi.org\/10.1016\/B978-0-12-822824-1.00039-0<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.22092\/ari.2021.356166.1793\">Abdulmalek Jaafar, J., &amp; Al-Rashedi, N. A. M. (2021). Evaluation of the Association of Transferrin Receptor Type 2 Gene Mutation (Y250X) with Iron Overload in Major \u03b2- Thalassemia. <em>Archives of Razi Institute<\/em>, <em>76<\/em>(5), 1551\u20131554. https:\/\/doi.org\/10.22092\/ari.2021.356166.1793<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1182\/blood.2021011338\">Girelli, D., Busti, F., Brissot, P., Cabantchik, I., Muckenthaler, M. U., &amp; Porto, G. (2022). Hemochromatosis classification: Update and recommendations by the BIOIRON Society. <em>Blood<\/em>, <em>139<\/em>(20), 3018\u20133029. https:\/\/doi.org\/10.1182\/blood.2021011338<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u30d8\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b9, TFR2, TFR2\u5909\u7570, \u907a\u4f1d\u6027\u9244\u904e\u8ca0\u8377, \u9244\u6c88\u7740\u75c7, \u907a\u4f1d\u5b50\u5909\u7570, \u30d8\u30d7\u30b7\u30b8\u30f3, \u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30ea\u30f3\u53d7\u5bb9\u4f53, \u809d\u75be\u60a3, \u7cd6\u5c3f\u75c5, \u5fc3\u7b4b\u75c7, \u7009\u8840\u7642\u6cd5<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-60141","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\/60141","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":8,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60141\/revisions"}],"predecessor-version":[{"id":128081,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60141\/revisions\/128081"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=60141"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}