Homozygous Deletion Of Hfe: The Sardinian Hemochromatosis?

Sara Pelucchi,Raffaella Mariani,Francesca Bertola,Cristina Arosio,Alberto Piperno

BLOOD（2009）

引用 12|浏览6

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摘要

To the editor: Type 1 hemochromatosis is generally due to homozygous p.C282Y mutation in HFE .[1][1],[2][2] We report the case of a young woman with a classical hemochromatosis phenotype due to a homozygous deletion in the 6p chromosome region containing HFE . The proband is a 29-year-old woman of

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sardinian hemochromatosis,homozygous deletion,hfe

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