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Correspondence
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Volume 336:1327-1328 May 1, 1997 Number 18
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Mutations of the Hereditary Hemochromatosis Candidate Gene HLA-H in Porphyria Cutanea Tarda

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To the Editor: Porphyria cutanea tarda is characterized by reduced activity of uroporphyrinogen decarboxylase, with hepatic accumulation of uroporphyrins, and photosensitive skin lesions. The clinical symptoms are effectively treated by phlebotomy. Excess hepatic iron, together with inappropriately high iron absorption, also occurs in porphyria cutanea tarda.1 An association between this disorder and HLA-linked hereditary hemochromatosis has been suggested2 but also contested.3 Recently, a new major-histocompatibility-complex (MHC) class I–like gene, HLA-H, has been identified, and two missense variants were found in 87 percent of unselected patients with hereditary hemochromatosis.4 That this gene has a role in hemochromatosis is supported by studies . . . [Full Text of this Article]

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