Article
Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload.
Haematologica - 1 Apr 2003
De Gobbi Marco, Daraio Filomena, Oberkanins Christian, Moritz Anne, Kury Fritz, Fiorelli Gemino, Camaschella Clara
Abstract excerpt
BACKGROUND AND OBJECTIVES: Hereditary hemochromatosis is a recessive condition characterized by iron accumulation in several organs, followed by organ damage and failure. The disorder is prevalently due to C282Y and H63D mutations in the HFE gene, but additional HFE and TFR2 mutations have been reported. Early iron overload may be assessed by biochemical parameters such as increased transferrin saturation and...
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