[Hereditary hemochromatosis: molecular diagnosis and effect of treatment].
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.
Szczeklik
Wojciech
W
II Katedra Chorób Wewnetrznych, Collegium Medicum Uniwersytetu Jagiellońskiego w Krakowie. wojsz@yahoo.com
Dropiński
Jerzy
J
Dziedzina
Sylwia
S
Szułdrzyński
Konstanty
K
Biesiada
Grazyńa
G
Mach
Tomasz
T
Sanak
Marek
M
D000328:Adult; D003545:Cysteine; D005838:Genotype; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D018962:Phlebotomy; D016133:Polymerase Chain Reaction; D014443:Tyrosine
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014443:Tyrosine; D003545:Cysteine