Mutations in HFE and TFR2 genes in a Spanish patient with hemochromatosis
Rev Esp Enferm Dig. 2011 Jul;103(7):379-82.
doi: 10.4321/s1130-01082011000700010.
[Article in
English,
Spanish]
Affiliation
- 1 Unit of Ferropathology, Deparament of Internal Medicine, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Abstract
Iron overload disease has a wide variety of genotypes. The genetic study of this disease confirms its hereditary nature and enables us to provide genetic counseling for first-degree relatives. We performed magnetic resonance imaging and liver biopsy in an asymptomatic patient with more than 1,000 µg/L of serum ferritin and studied the genes involved in this condition. The phenotype of iron overload is confirmed by a predominantly periportal pattern of iron deposits in the liver suggestive of genetic disease. In the case we present the molecular study revealed a double heterozygosity for the mutations c.187C>G (p.H63D) and c.840C>G (p.F280L) in the HFE and transferrin receptor 2 (TFR2) genes, respectively.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Biopsy
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DNA / genetics
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Ferritins / blood
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Hemochromatosis / genetics*
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Hemochromatosis / pathology
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Hemochromatosis Protein
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Histocompatibility Antigens Class I / genetics*
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Humans
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Iron / blood
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Iron / metabolism
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Liver / metabolism
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Liver / pathology
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Magnetic Resonance Imaging
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Male
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Membrane Proteins / genetics*
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Middle Aged
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Receptors, Transferrin / genetics*
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Receptors, Transferrin / metabolism
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Reverse Transcriptase Polymerase Chain Reaction
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Transferrin / urine
Substances
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HFE protein, human
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Hemochromatosis Protein
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Histocompatibility Antigens Class I
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Membrane Proteins
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Receptors, Transferrin
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TFR2 protein, human
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Transferrin
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DNA
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Ferritins
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Iron