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[Hereditary hemochromatosis: molecular diagnosis and effect of treatment]

Wojciech Szczeklik1, Jerzy Dropiński, Sylwia Dziedzina

  • 1II Katedra Chorób Wewnetrznych, Collegium Medicum Uniwersytetu Jagiellońskiego w Krakowie. wojsz@yahoo.com

Polskie Archiwum Medycyny Wewnetrznej
|October 29, 2004
PubMed

Hereditary hemochromatosis is a genetic disorder, inherited as an autosomal recessive trait, characterized by iron overload. A single mutation (C282Y) in the HFE gene is found in more than 90% of these patients. We report the case of a 50-year-old man, with clinical symptoms of hemochromatosis, who was found to be homozygous for the C282Y mutation. We present the results of therapeutic phlebotomy after one year of the treatment. Genetic tests were performed on the patient's close relatives and revealed that his son was also homozygous for the C282Y mutation. Early phlebotomy could prevent iron deposition and organ damage in this patient. Genetic determining of the HFE mutations is a useful noninvasive method of diagnosing hereditary hemochromatosis.

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