{"id":33614,"date":"2022-07-11T17:14:51","date_gmt":"2022-07-11T08:14:51","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33614"},"modified":"2026-04-28T12:50:05","modified_gmt":"2026-04-28T03:50:05","slug":"sickle-cell-disease","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sickle-cell-disease\/","title":{"rendered":"\u938c\u72b6\u8d64\u8840\u7403\u75c7"},"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>\u938c\u72b6\u8d64\u8840\u7403\u75c7\uff08Sickle Cell Disease\uff09\u306f\u3001\u907a\u4f1d\u5b50\u300cHBB\u300d\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u8d64\u8840\u7403\u304c\u938c\u72b6\u306b\u5909\u5f62\u3057\u3001\u8840\u7ba1\u3092\u8a70\u307e\u3089\u305b\u308b\u907a\u4f1d\u6027\u306e\u75be\u60a3\u3067\u3059\u3002\u4e3b\u306a\u75c7\u72b6\u306f\u6fc0\u3057\u3044\u75db\u307f\u3084\u8ca7\u8840\u3001\u611f\u67d3\u75c7\u3078\u306e\u62b5\u6297\u529b\u4f4e\u4e0b\u3067\u3001\u4e16\u754c\u306b\u7d04320\u4e07\u4eba\u306e\u60a3\u8005\u304c\u3044\u307e\u3059\u3002\u73fe\u5728\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u3084miRNA\u306a\u3069\u65b0\u6280\u8853\u3092\u7528\u3044\u305f\u6cbb\u7642\u6cd5\u304c\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\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>HBB\uff5cSickle-Cell Disease<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u938c\u72b6\u8d64\u8840\u7403\u75c7\uff08Sickle Cell Disease\u3001\u7565\u79f0\uff1aSCD\uff09\u306f\u3001\u907a\u4f1d\u6027\u306e\u8840\u6db2\u75be\u60a3\u306e\u4e00\u7fa4\u3092\u6307\u3057\u3001\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3S\uff08HbS\uff09\u3068\u3044\u3046\u7570\u5e38\u306a\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\u304c\u539f\u56e0\u3067\u8d77\u3053\u308a\u307e\u3059\u3002\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\u306f\u8d64\u8840\u7403\u306e\u4e2d\u3067\u9178\u7d20\u3092\u904b\u642c\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3059\u304c\u3001HbS\u306f\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\uff08\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\u03b2\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u907a\u4f1d\u5b50\u3001\u7565\u79f0\uff1aHBB\uff09\u306e\u4e00\u90e8\u306b\u5909\u7570\u304c\u751f\u3058\u3066\u751f\u307e\u308c\u307e\u3059\u3002\u3053\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u30a2\u30df\u30ce\u9178\u306e\u30b0\u30eb\u30bf\u30df\u30f3\u9178\uff08Glu\uff09\u304c\u30d0\u30ea\u30f3\uff08Val\uff09\u306b\u7f6e\u304d\u63db\u308f\u308a\u307e\u3059\uff08\u03b26 Glu\u2192Val\u3068\u3044\u3046\u5909\u7570\uff09\u3002\u3053\u306e\u7570\u5e38\u306b\u3088\u308a\u3001\u4f4e\u9178\u7d20\u72b6\u614b\u306b\u306a\u308b\u3068\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\u304c\u9396\u72b6\u306b\u91cd\u5408\uff08\u30dd\u30ea\u30de\u30fc\u5316\uff09\u3057\u3001\u8d64\u8840\u7403\u304c\u786c\u304f\u938c\uff08\u304b\u307e\uff09\u306e\u3088\u3046\u306b\u5909\u5f62\u3057\u307e\u3059\u3002\u5909\u5f62\u3057\u305f\u8d64\u8840\u7403\u306f\u7d30\u3044\u8840\u7ba1\u3092\u8a70\u307e\u3089\u305b\uff08\u8840\u7ba1\u9589\u585e\uff09\u3001\u8d64\u8840\u7403\u306e\u5bff\u547d\u3092\u7e2e\u3081\u308b\u305f\u3081\u6eb6\u8840\u6027\u8ca7\u8840\u3092\u8d77\u3053\u3057\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u6162\u6027\u7684\u306a\u81d3\u5668\u969c\u5bb3\u3084\u6fc0\u3057\u3044\u75db\u307f\u306e\u767a\u4f5c\u3001\u611f\u67d3\u75c7\u3078\u306e\u62b5\u6297\u529b\u4f4e\u4e0b\u306a\u3069\u304c\u751f\u3058\u3001\u5bff\u547d\u3092\u7e2e\u3081\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u6982\u8981\uff08\u75be\u60a3\u306e\u7a2e\u985e\u3068\u5206\u5e03\uff09 <\/h3>\n\n\n\n<p>\u938c\u72b6\u8d64\u8840\u7403\u75c7\u306b\u306f\u3001\u938c\u72b6\u8d64\u8840\u7403\u8ca7\u8840\uff08HbSS\u578b\uff09\u306e\u307b\u304b\u3001HbS\u03b2\u30b5\u30e9\u30bb\u30df\u30a2\u3001HbSC\u3001HbSD\u3001HbSE\u306a\u3069\u306e\u578b\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u4e2d\u3067\u3001HbSS\u578b\u3068HbS\u03b2\u2070\u30b5\u30e9\u30bb\u30df\u30a2\u304c\u6700\u3082\u91cd\u75c7\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u4e16\u754c\u7684\u306b\u5e83\u304f\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u7279\u306b\u30a2\u30d5\u30ea\u30ab\uff08\u30b5\u30cf\u30e9\u4ee5\u5357\uff09\u3001\u4e2d\u6771\u3001\u30a4\u30f3\u30c9\u3001\u304a\u3088\u3073\u5357\u5317\u30a2\u30e1\u30ea\u30ab\u306e\u30a2\u30d5\u30ea\u30ab\u7cfb\u4f4f\u6c11\u306b\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u30de\u30e9\u30ea\u30a2\u304c\u983b\u7e41\u306b\u6d41\u884c\u3059\u308b\u5730\u57df\u3067\u7279\u306b\u60a3\u8005\u304c\u591a\u3044\u306e\u306f\u3001\u938c\u72b6\u8d64\u8840\u7403\u306e\u907a\u4f1d\u5b50\u3092\u7247\u65b9\u3060\u3051\u6301\u3064\u4eba\uff08\u938c\u72b6\u8d64\u8840\u7403\u5f62\u8cea\uff1aHbAS\u578b\uff09\u304c\u30de\u30e9\u30ea\u30a2\u306b\u5bfe\u3057\u3066\u4e00\u5b9a\u306e\u62b5\u6297\u529b\u3092\u6301\u3064\u305f\u3081\u3067\u3059\u3002\u6cbb\u7642\u3067\u306f\u5f93\u6765\u3001\u80ce\u5150\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\uff08HbF\uff09\u306e\u6fc3\u5ea6\u3092\u4e0a\u3052\u3066\u75c7\u72b6\u3092\u8efd\u6e1b\u3059\u308b\u76ee\u7684\u3067\u30d2\u30c9\u30ed\u30ad\u30b7\u30a6\u30ec\u30a2\uff08Hydroxyurea\u3001\u7565\u79f0\uff1aHU\uff09\u304c\u4e3b\u306b\u4f7f\u308f\u308c\u3066\u304d\u307e\u3057\u305f\u304c\u3001\u526f\u4f5c\u7528\u306a\u3069\u306e\u554f\u984c\u304b\u3089\u3001\u65b0\u305f\u306b\u30de\u30a4\u30af\u30edRNA\uff08miRNA\uff09\u3092\u5229\u7528\u3057\u305f\u6cbb\u7642\u3084\u907a\u4f1d\u5b50\u7de8\u96c6\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u306a\u3069\u306e\u65b0\u6280\u8853\u306e\u958b\u767a\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>\u938c\u72b6\u8d64\u8840\u7403\u75c7\u306e\u60a3\u8005\u306f\u4e16\u754c\u4e2d\u3067\u7d04320\u4e07\u4eba\u304a\u308a\u3001\u6bce\u5e74\u7d0430\u4e07\u4eba\u306e\u65b0\u751f\u5150\u304c\u8a3a\u65ad\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u3046\u3061\u7d0475%\u306f\u30b5\u30cf\u30e9\u4ee5\u5357\u306e\u30a2\u30d5\u30ea\u30ab\u306b\u96c6\u4e2d\u3057\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u30a2\u30e1\u30ea\u30ab\u5408\u8846\u56fd\u306b\u308210\u4e07\u4eba\u4ee5\u4e0a\u306e\u30a2\u30d5\u30ea\u30ab\u7cfb\u30a2\u30e1\u30ea\u30ab\u4eba\u60a3\u8005\u304c\u3044\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u304c\u30a2\u30d5\u30ea\u30ab\u3001\u4e2d\u6771\u3001\u30a4\u30f3\u30c9\u306a\u3069\u3067\u7279\u306b\u591a\u3044\u306e\u306f\u3001\u30de\u30e9\u30ea\u30a2\u306e\u6d41\u884c\u5730\u57df\u3068\u6b74\u53f2\u7684\u306b\u4e00\u81f4\u3057\u3066\u3044\u308b\u305f\u3081\u3067\u3059\u3002\u938c\u72b6\u8d64\u8840\u7403\u5f62\u8cea\uff08HbAS\u578b\uff09\u306f\u91cd\u75c7\u30de\u30e9\u30ea\u30a2\u306b\u5bfe\u3059\u308b\u9632\u5fa1\u52b9\u679c\u3092\u6301\u3064\u305f\u3081\u3001\u3053\u306e\u907a\u4f1d\u5b50\u5909\u7570\uff08HBB\u907a\u4f1d\u5b50\u306e\u5909\u7570\uff1ac.20T&gt;A, p.Glu6Val\uff09\u306f7000\u5e74\u4ee5\u4e0a\u524d\u304b\u3089\u6d88\u3048\u308b\u3053\u3068\u306a\u304f\u6b8b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u75ab\u5b66\u7684\u5909\u7570\uff08\u5730\u57df\u5dee\u306b\u3088\u308b\u75c7\u72b6\u306e\u9055\u3044\uff09 <\/h3>\n\n\n\n<p>\u938c\u72b6\u8d64\u8840\u7403\u75c7\u306e\u75c7\u72b6\u306e\u91cd\u3055\u306f\u3001HBB\u907a\u4f1d\u5b50\u5468\u8fba\u306b\u3042\u308b\u907a\u4f1d\u5b50\u30de\u30fc\u30ab\u30fc\uff08\u30cf\u30d7\u30ed\u30bf\u30a4\u30d7\uff09\u306e\u9055\u3044\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u7279\u306b\u30a2\u30e9\u30d6\u30fb\u30a4\u30f3\u30c9\u578b\uff08AI\u578b\uff09\u3084\u30bb\u30cd\u30ac\u30eb\u578b\uff08SEN\u578b\uff09\u3068\u547c\u3070\u308c\u308b\u30cf\u30d7\u30ed\u30bf\u30a4\u30d7\u306f\u80ce\u5150\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\uff08HbF\uff09\u304c\u591a\u304f\u3001\u75c7\u72b6\u304c\u6bd4\u8f03\u7684\u8efd\u304f\u306a\u308a\u307e\u3059\u3002\u4e00\u65b9\u3001\u4e2d\u592e\u30a2\u30d5\u30ea\u30ab\u5171\u548c\u56fd\u578b\uff08CAR\u578b\u3001\u5225\u540d\u30d0\u30f3\u30c8\u30a5\u578b\uff09\u306f\u75c7\u72b6\u304c\u91cd\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u3046\u3057\u305f\u907a\u4f1d\u5b50\u306e\u9055\u3044\u306f\u3001\u6b74\u53f2\u7684\u306a\u4eba\u53e3\u306e\u79fb\u52d5\u3084\u3001\u30a2\u30d5\u30ea\u30ab\u304b\u3089\u5927\u897f\u6d0b\u30fb\u30b5\u30cf\u30e9\u3092\u8d8a\u3048\u3066\u884c\u308f\u308c\u305f\u5974\u96b7\u8cbf\u6613\u306e\u5f71\u97ff\u3092\u53d7\u3051\u3066\u5e83\u307e\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>\u938c\u72b6\u8d64\u8840\u7403\u75c7\u306f11\u756a\u67d3\u8272\u4f53\uff08\u4f4d\u7f6e11p15.4\uff09\u306b\u3042\u308bHBB\u907a\u4f1d\u5b50\u306b\u8d77\u304d\u308b\u3001\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u306e\u907a\u4f1d\u5b50\u5909\u7570\u304c\u539f\u56e0\u3067\u3059\u3002\u3053\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u8d64\u8840\u7403\u304c\u9178\u7d20\u4e0d\u8db3\u306b\u306a\u308b\u3068\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3S\u304c\u91cd\u5408\u3057\u3001\u8d64\u8840\u7403\u306e\u5f62\u304c\u5909\u308f\u3063\u3066\u8840\u7ba1\u9589\u585e\u3084\u6eb6\u8840\u3092\u8d77\u3053\u3057\u307e\u3059\u3002\u75c7\u72b6\u306e\u91cd\u3055\u306b\u306f\u80ce\u5150\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\uff08HbF\uff09\u306e\u91cf\u3084\u907a\u4f1d\u7684\u306a\u30cf\u30d7\u30ed\u30bf\u30a4\u30d7\u3001\u4ed6\u306e\u907a\u4f1d\u5b50\u5909\u7570\uff08\u03b1\u30b5\u30e9\u30bb\u30df\u30a2\u306a\u3069\uff09\u3001\u74b0\u5883\u56e0\u5b50\u306a\u3069\u304c\u5f71\u97ff\u3057\u307e\u3059\u3002<\/p>\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>\u938c\u72b6\u8d64\u8840\u7403\u75c7\u306e\u4e3b\u306a\u75c7\u72b6\u306b\u306f\u3001\u6fc0\u3057\u3044\u75db\u307f\u3092\u4f34\u3046\u8840\u7ba1\u9589\u585e\u767a\u4f5c\u3001\u6025\u6027\u80f8\u90e8\u75c7\u5019\u7fa4\u3001\u8133\u5352\u4e2d\u3001\u813e\u81d3\u6a5f\u80fd\u4f4e\u4e0b\u3001\u611f\u67d3\u75c7\u3078\u306e\u304b\u304b\u308a\u3084\u3059\u3055\u3001\u6162\u6027\u7684\u306a\u6eb6\u8840\u6027\u8ca7\u8840\u3001\u80c6\u77f3\u75c7\u3001\u814e\u6a5f\u80fd\u969c\u5bb3\u3001\u80ba\u9ad8\u8840\u5727\u75c7\u3001\u9aa8\u306e\u7121\u8840\u7ba1\u58ca\u6b7b\u3001\u8db3\u306e\u6f70\u760d\u3001\u6301\u7d9a\u52c3\u8d77\u75c7\uff08\u9670\u830e\u306e\u75db\u307f\u3092\u4f34\u3046\u7570\u5e38\u52c3\u8d77\uff09\u3001\u7db2\u819c\u75c7\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002\u75c7\u72b6\u306f\u578b\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001HbSS\u578b\u304c\u6700\u3082\u91cd\u75c7\u3067\u3001HbSC\u578b\u3084HbSE\u578b\u306f\u6bd4\u8f03\u7684\u8efd\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u6700\u8fd1\u3067\u306fHbSE\u578b\u3067\u3082\u6df1\u523b\u306a\u8840\u7ba1\u9589\u585e\u767a\u4f5c\u3084\u6b7b\u4ea1\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>\u938c\u72b6\u8d64\u8840\u7403\u75c7\u306e\u8a3a\u65ad\u306f\u3001\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\u96fb\u6c17\u6cf3\u52d5\u6cd5\u3084\u9ad8\u901f\u6db2\u4f53\u30af\u30ed\u30de\u30c8\u30b0\u30e9\u30d5\u30a3\u30fc\uff08HPLC\uff09\u306a\u3069\u3092\u7528\u3044\u3066\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\u306e\u7a2e\u985e\u3092\u7279\u5b9a\u3057\u3001\u3055\u3089\u306b\u907a\u4f1d\u5b50\u691c\u67fb\uff08DNA\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\uff09\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002\u7279\u306b\u65b0\u751f\u5150\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3084\u598a\u5a20\u524d\u306e\u691c\u67fb\u3092\u901a\u3058\u3066\u65e9\u671f\u306b\u767a\u898b\u3057\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306b\u3088\u308b\u65b0\u305f\u306a\u60a3\u8005\u306e\u767a\u751f\u3092\u4e88\u9632\u3059\u308b\u3053\u3068\u3082\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>\u30d2\u30c9\u30ed\u30ad\u30b7\u30a6\u30ec\u30a2\uff08HU\uff09\u306f\u4e3b\u306a\u6cbb\u7642\u85ac\u3068\u3057\u3066\u7c73\u56fd\u98df\u54c1\u533b\u85ac\u54c1\u5c40\uff08FDA\uff09\u306b\u627f\u8a8d\u3055\u308c\u3001HbF\u306e\u5897\u52a0\u306b\u3088\u3063\u3066\u75c7\u72b6\u3092\u8efd\u6e1b\u3057\u307e\u3059\u304c\u3001\u526f\u4f5c\u7528\u304c\u554f\u984c\u8996\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u73fe\u5728\u306f\u3001\u30df\u30af\u30edRNA\u3092\u5229\u7528\u3057\u3066HbF\u3092\u5897\u3084\u3059\u6cbb\u7642\u6cd5\u3084\u3001Voxelotor\uff08\u30dc\u30af\u30bb\u30ed\u30c8\u30fc\u30eb\uff09\u3001Crizanlizumab\uff08\u30af\u30ea\u30b6\u30f3\u30ea\u30ba\u30de\u30d6\uff09\u3001\u907a\u4f1d\u5b50\u7de8\u96c6\u6280\u8853\uff08CRISPR-Cas9\uff09\u3084\u907a\u4f1d\u5b50\u6cbb\u7642\uff08\u4f8b\uff1aBCH-BB694\uff09\u306e\u958b\u767a\u304c\u9032\u307f\u3001\u6cbb\u7642\u52b9\u679c\u306e\u5411\u4e0a\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>\u938c\u72b6\u8d64\u8840\u7403\u75c7\u306e\u4e88\u5f8c\u306f\u3001HbF\u6fc3\u5ea6\u3084\u907a\u4f1d\u5b50\u306e\u30bf\u30a4\u30d7\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002HbF\u6fc3\u5ea6\u304c\u9ad8\u3044\u307b\u3069\u75c7\u72b6\u306f\u8efd\u304f\u306a\u308a\u3001\u7279\u306bHbF\u304c20%\u4ee5\u4e0a\u3042\u308b\u5834\u5408\u3001\u5408\u4f75\u75c7\u306e\u30ea\u30b9\u30af\u304c\u8457\u3057\u304f\u6e1b\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u6210\u4eba\u671f\u306b\u306f\u814e\u969c\u5bb3\u3084\u80ba\u9ad8\u8840\u5727\u75c7\u306a\u3069\u306e\u91cd\u3044\u5408\u4f75\u75c7\u304c\u5897\u3048\u3001\u73fe\u5728\u3082\u75c7\u72b6\u7ba1\u7406\u3084\u6cbb\u7642\u306e\u6539\u5584\u304c\u6c42\u3081\u3089\u308c\u3066\u3044\u307e\u3059\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\/10.1007\/s40291-022-00589-z\">Starlard-Davenport, A., Gu, Q. &amp; Pace, B.S. Targeting Genetic Modifiers of HBG Gene Expression in Sickle Cell Disease: The miRNA Option. <em>Mol Diagn Ther<\/em> <strong>26<\/strong>, 497\u2013509 (2022). https:\/\/doi.org\/10.1007\/s40291-022-00589-z<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1159\/000511342\">Adekile, A. (2021). The genetic and clinical significance of fetal hemoglobin expression in sickle cell disease. <em>Medical Principles and Practice<\/em>, <em>30<\/em>(3), 201\u2013211. https:\/\/doi.org\/10.1159\/000511342<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/hmg\/ddab004\">Esoh, K., &amp; Wonkam, A. (2021). Evolutionary history of sickle-cell mutation: Implications for global genetic medicine. <em>Human Molecular Genetics<\/em>, <em>30<\/em>(R1), R119\u2013R128. https:\/\/doi.org\/10.1093\/hmg\/ddab004<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s12967-021-02931-1\">Khamees, I., Ata, F., Choudry, H. <em>et al.<\/em> Manifestations of HbSE sickle cell disease: a systematic review. <em>J Transl Med<\/em> <strong>19<\/strong>, 262 (2021). https:\/\/doi.org\/10.1186\/s12967-021-02931-1<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1111\/ijlh.13885\">Harteveld, C. L., Achour, A., Arkesteijn, S. J. G., Ter Huurne, J., Verschuren, M., Bhagwandien\u2010Bisoen, S., Schaap, R., Vijfhuizen, L., El Idrissi, H., &amp; Koopmann, T. T. (2022). The hemoglobinopathies, molecular disease mechanisms and diagnostics. <em>International Journal of Laboratory Hematology<\/em>, <em>44<\/em>(S1), 28\u201336. https:\/\/doi.org\/10.1111\/ijlh.13885<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/medicina57101106\">Cyrus, C. (2021). The role of mirnas as therapeutic tools in sickle cell disease. <em>Medicina<\/em>, <em>57<\/em>(10), 1106. https:\/\/doi.org\/10.3390\/medicina57101106<\/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>\u938c\u72b6\u8d64\u8840\u7403\u75c7, Sickle Cell Disease, SCD, HBB\u907a\u4f1d\u5b50, HbS, HbSS\u578b, HbSC\u578b, HbS\u03b2\u30b5\u30e9\u30bb\u30df\u30a2, \u30d8\u30e2\u30b0\u30ed\u30d3\u30f3S, \u907a\u4f1d\u5b50\u6cbb\u7642, CRISPR-Cas9, miRNA, \u30d2\u30c9\u30ed\u30ad\u30b7\u30a6\u30ec\u30a2, Voxelotor, Crizanlizumab, \u6eb6\u8840\u6027\u8ca7\u8840<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":28,"template":"page_gd.php","class_list":["post-33614","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\/33614","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\/33614\/revisions"}],"predecessor-version":[{"id":127703,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33614\/revisions\/127703"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33614"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}