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Hemocromatosis hereditaria

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https://www.readbyqxmd.com/read/15388046/-genotype-and-phenotypic-expression-of-hereditary-hemochromatosis-in-spain
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COMPARATIVE STUDY
A Pardo, E Quintero, Y Barrios, M Bruguera, L Rodrigo, C Vila, D Acero, C Guarner, S Pascual, L López, R Moreno, E Fábrega, R Andrade, G Peláez, J Santos, M Buti, M Torres
INTRODUCTION: The prevalence of C282Y homozygosity in patients with hereditary hemochromatosis (HH) has been reported to be markedly lower in the Mediterranean Basin than in northern Europe. In Spain, the available data are contradictory and limited to small series in specific regions. The objective of this study is to determine the prevalence of the 2 main HFE gene mutations in a large series of unrelated Spanish patients with HH from different geographical origins. PATIENTS AND METHOD: The criteria for HH diagnosis were: repeat serum transferrin saturation index (> 45% plus C282Y homozygosity and/or hepatic iron index (> 1...
October 2004: Gastroenterología y Hepatología
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