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如果你的醫療保險容許你的專科醫生給你做HFE mutation檢查的話(檢查費用非常貴)，如果能證實有HFE mutation, 就可以證實你可能患有遺傳性血色素沉著症，這樣你的親屬也要做檢查 (常染色體隱性遺傳性疾病)。
中文文獻較少，請看下面這篇：
HFE基因與遺傳性血色素沉著症
中華醫學遺傳學雜誌 CHINESE JOURNAL OF MEDICAL GENETICS
2002 Vol.19 No.2 P.159-162
Relationship between HFE gene and hereditary hemochromatosis
孟海英 侯一平
摘 要：HFE基因發現於1996年,屬於HLA Ⅰ類樣基因,是遺傳性血色素沉著癥候選基因.HFE分子的功能可能是參與調節轉鐵蛋白與轉鐵蛋白受體間的相互作用.遺傳性血色素沉著症是一種常染色體隱性遺傳性鐵異常沉積性疾病,高加索群體中發病率高,平均不到300人就有一個是該病患者.大量群體遺傳學研究結果,提示HFE基因C282Y突變與遺傳性血色素沉著症顯著相關, HFE H63D突變對遺傳性血色素沉著症影響較小.新近發現,HFE分子通過與轉鐵蛋白受體反應影響轉鐵蛋白與轉鐵蛋白受體間的相互作用,從而調節體內鐵平衡.C282Y突變可使HFE分子不能與β2微球蛋白結合,不能轉運到細胞表面,從而失去對轉鐵蛋白和轉鐵蛋白受體作用的調節功能.H63D突變影響功能的機理目前尚不清楚,現有研究提示H63D突變蛋白可與β2微球蛋白結合,並轉運到細胞表面,突變對分子功能的影響可能也表現在不能調節轉鐵蛋白和轉鐵蛋白受體間的作用.
關鍵詞：HFE基因; 人白細胞H抗原; 遺傳性血色素沉著症; C282Y突變; H63D突變
分類號：R5 文獻標識碼：A
基金項目：國家自然科學基金(39993420)
作者簡介：侯一平(E-mail: forensic@mail.sc.cninfo.net)
作者單位：孟海英（610041,成都,四川大學基礎醫學與法醫學院）
侯一平（610041,成都,四川大學基礎醫學與法醫學院）
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[ 本帖最後由 goodoctor 於 2006-12-17 12:31 編輯 ] |
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