Non-expressing homozygous C282Y carriers and haemochromatosis

The BMJ Pub Date : 2024-12-09 DOI:10.1136/bmj.q2704
Paul C Adams
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引用次数: 0

Abstract

Haemochromatosis related diabetes can occur without iron overload After the detailed description of 311 patients with iron overload by J H Sheldon in 1935,1 people assumed that iron overload and haemochromatosis were synonymous and that iron overload throughout the body defined and caused the clinical disease. Iron overload was determined by liver biopsy, autopsy, and response to therapeutic phlebotomy. In the 1970s, newer blood tests such as serum ferritin and transferrin saturation became part of the diagnostic testing for iron overload.23 In 2005 data from the Hemochromatosis and Iron Overload Screening (HEIRS) Study introduced genetic testing and showed that approximately 57% of female C282Y homozygotes and 20% of male C282Y homozygotes had a normal serum ferritin and/or transferrin saturation without apparent iron overload.4 Transferrin saturation was found to be highly variable within individuals,5 and serum ferritin had mostly false positive results in patients without iron overload. Magnetic resonance imaging became a new tool to assess iron overload in the …
非表达纯合子C282Y携带者与血色病
1935年J·H·谢尔登对311例铁超载患者的详细描述后,人们认为铁超载与血色素病是同义词,认为全身铁超载定义并导致了临床疾病。铁超载是通过肝活检、尸检和对治疗性静脉切开术的反应来确定的。在20世纪70年代,较新的血液测试,如血清铁蛋白和转铁蛋白饱和度,成为铁负荷诊断测试的一部分2005年,血色素沉着症和铁超载筛查(继承人)研究的数据引入了基因检测,显示大约57%的女性C282Y纯合子和20%的男性C282Y纯合子的血清铁蛋白和/或转铁蛋白饱和度正常,没有明显的铁超载转铁蛋白饱和度在个体之间变化很大,5血清铁蛋白在没有铁超载的患者中大多呈假阳性。磁共振成像已成为评估铁超载的新工具。
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