鐮刀型紅血球疾病Sickle Cell Disease (SCD)和輸血依賴型地中海貧血症Transfusion-dependent β-thalassemia (TDT)是兩款基因變異所致的遺傳病。722Please respect copyright.ＰＥＮＡＮＡ6nZIAVYAkv
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這兩種遺傳病的患者，必須經常透過輸血來抵抗疾病牽伸出的各種問題。722Please respect copyright.ＰＥＮＡＮＡyKWYqHS7ef
除為生活帶來不便外，經常輸血亦會導致血液的鐵含量增加，血鐵過高可引致器官衰竭。722Please respect copyright.ＰＥＮＡＮＡGR63sFnNcz
現時雖有各種手段可減低血液的鐵含量，但有不少患者依然受著血鐵過高引致的問題困擾。722Please respect copyright.ＰＥＮＡＮＡrLfHyjpIUX
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（圖2）Globin蛋白是構成紅血球的主要蛋白質，共有α、β、 γ三種。722Please respect copyright.ＰＥＮＡＮＡANQkfoQqa7
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而βGlobin蛋白的基因變異就是造成SCD及TDT疾病的主因，導致紅血球沒法正常輸送氧氣到各身體部份。722Please respect copyright.ＰＥＮＡＮＡkpXPM2RgV1
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當我們還在母體內的時候，紅血球是以兩條α兩條γ Globin蛋白的方式組成。722Please respect copyright.ＰＥＮＡＮＡRsBaGq7Fyz
但出世後的三個月左右，紅血球便會以兩條α兩條β Globin蛋白的方式組成，逐漸取代兩條α兩條γ。722Please respect copyright.ＰＥＮＡＮＡbyDHKSg9BN
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基於SCD及TDT的問題是出自在βGlobin蛋白上，所以患者嬰兒頭三個月的時候並不會出現病徵。722Please respect copyright.ＰＥＮＡＮＡlD5j3ZiXGS
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（圖3）SCD及TDT的問題純粹是出自在βGlobin蛋白的變異，但他們的α及γGlobin蛋白實情是並沒有問題。722Please respect copyright.ＰＥＮＡＮＡ5xcVeXVnln
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如果能找出方法驅使他們的身體製作用α及γGlobin蛋白以成的紅血球，那豈不是治病良方?722Please respect copyright.ＰＥＮＡＮＡv3afj5s3me
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各種證據均指出，促使紅血球以2α2β方式呈現是源自於一隻名為BCL11A的蛋白質。722Please respect copyright.ＰＥＮＡＮＡYD4P6hWjY2
因此，科學家及醫生們嘗試利用CRISPR基因編輯技術整走BCL11A蛋白質，希望以2α2γ的方式根治為SCD及TDT疾病（Ref1)。722Please respect copyright.ＰＥＮＡＮＡLvnlFNXSGC
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CRISPR基因編輯技術延伸閱讀：722Please respect copyright.ＰＥＮＡＮＡSI5rV967Du
https://www.penana.com/article/465369722Please respect copyright.ＰＥＮＡＮＡrXMcWDNZIW
https://www.penana.com/article/465345722Please respect copyright.ＰＥＮＡＮＡ9I5cHnToUh
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（圖4）整個過程的簡要為：722Please respect copyright.ＰＥＮＡＮＡ8OxUTknbSU
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首先促使病人血液充滿製作血細胞的幹細胞，繼而從血液中提取適合的幹細胞。722Please respect copyright.ＰＥＮＡＮＡPVNQ7YAlK9
在實驗室內，利用CRISPR技術對製作BCL11A蛋白質的基因進行切割，722Please respect copyright.ＰＥＮＡＮＡvv5spCinsQ
大幅度減低造血幹細胞製作BCL11A蛋白質的能力。722Please respect copyright.ＰＥＮＡＮＡ39e5KsdXOl
最後再將基因編輯過的造血幹細胞注入在病人已被醫藥方式清除大部份幹細胞的骨髓內。722Please respect copyright.ＰＥＮＡＮＡgWb3g6xI5q
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（圖5）圖中分別為兩名病人手術後的數據。722Please respect copyright.ＰＥＮＡＮＡ07qU3pvC3G
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藍色區域為2α2γ紅血球，綠色及紫色區域為2α2β紅血球。722Please respect copyright.ＰＥＮＡＮＡWlbpZGbNCB
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經過手術後， 2α2γ紅血球數量大升，而最振奮人心的是兩名病人手術後再也不用進行任何輸血(暫時所知時段為病人手術後的18個月)，其間的副作用一律均被順利治癒。722Please respect copyright.ＰＥＮＡＮＡ2lvUr3LPf7
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CRISPR技術一直有著垢病有機會對預期以外的基因進行編輯，但此研究並沒有觀察得到出現此情況。722Please respect copyright.ＰＥＮＡＮＡlwVeh2dPM5
而陸續至少有六名病人進利了一模一樣的手術，暫時所得的數據與文章一致。722Please respect copyright.ＰＥＮＡＮＡ7Cdizd42Jj
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由此可以預見得到，CRISPR技術將會陸續成為醫治遺傳病的主流。722Please respect copyright.ＰＥＮＡＮＡOu51vuHVsa
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如果想我快啲出文的話，請入去Penana網站科普專欄–薯不揀單俾一個like以及Bookmark，這對我非常之重要。722Please respect copyright.ＰＥＮＡＮＡlwHNOv2LDM
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Link: https://www.penana.com/story/66244/%E7%A7%91%E6%99%AE%E5%B0%88%E6%AC%84-%E8%96%AF%E4%B8%8D%E6%8F%80%E5%96%AE/toc722Please respect copyright.ＰＥＮＡＮＡMRPKiqvbxA
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同時亦可以在Penana網站裡按「買一嚿/半嚿薯仔」，以課金的方式推動我繼續搜羅資料寫文，多謝。722Please respect copyright.ＰＥＮＡＮＡb6pQwHeU24
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https://www.penana.com/user/27349/%E8%96%AF%E4%BB%94%E8%81%9E%E8%8C%B1%E8%8E%89/portfolio722Please respect copyright.ＰＥＮＡＮＡWU1jiatBOc
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有興趣接收科學資訊的話，歡迎follow IG: potatopigtongue。722Please respect copyright.ＰＥＮＡＮＡtxL1YRyjT6
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Ref1:https://www.nejm.org/doi/full/10.1056/NEJMoa2031054722Please respect copyright.ＰＥＮＡＮＡnWBYZvoVYl
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