Hereditary Hemochromatosis: Missed Diagnosis or Misdiagnosis?

Abstract Background Hereditary hemochromatosis is a disorder that can cause iron overload and organ damage. Hereditary hemochromatosis is characterized by mutations in the HFE gene. HFE C282Y homozygotes and compound heterozygotes (C282Y/H63D) are at risk of developing manifestations of hemochromato...

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Veröffentlicht in:	The American journal of medicine 2013-11, Vol.126 (11), p.1010-1015
Hauptverfasser:	Cherfane, Cynthia E., MD, Hollenbeck, Ryan D., MD, Go, Jorge, MD, MSc, Brown, Kyle E., MD, MSc
Format:	Artikel
Sprache:	eng
Schlagworte:	Academic Medical Centers - statistics & numerical data Adult Aged Clinical outcomes Diagnosis, Differential Diagnostic Errors - statistics & numerical data Female Genetic Markers Genetic Testing - utilization Genotype Genotype & phenotype Hematologic Diseases - complications Hematologic Diseases - diagnosis Hemochromatosis - diagnosis Hemochromatosis - genetics Hemochromatosis - therapy Hemochromatosis Protein Hepatology Hereditary hemochromatosis Histocompatibility Antigens Class I - genetics Humans Internal Medicine Iron overload Iron Overload - etiology Liver disease Liver diseases Liver Diseases - complications Liver Diseases - diagnosis Male Medical diagnosis Membrane Proteins - genetics Middle Aged Phlebotomy Phlebotomy - utilization Practice Patterns, Physicians' - statistics & numerical data Tertiary Care Centers - statistics & numerical data Unnecessary Procedures - statistics & numerical data
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