Hemochromatosis
Diagnosis
Comparison of the unsaturated iron-binding capacity with transferrin saturation as a screening test to detect C282Y homozygotes for hemochromatosis in 101168 participants in the hemochromatosis and iron overload screening (HEIRS) study.
Adams PC, Reboussin DM, Leiendecker-Foster C, et al.
Clin Chem. 2005 Apr 15; [Epub ahead of print].
Description: A provocative study suggesting superior clinical utility of the unsaturated iron-binding capacity (UIBC) versus conventional transferrin saturation measurement, in screening for hemochromatosis and iron overload.
PubMed citation number: 15833784
Hemochromatosis and iron-overload screening in a racially diverse population.
Adams PC, Reboussin DM, Barton JC, et al.
Hemochromatosis and Iron Overload Screening (HEIRS) Study research investigators.
N Engl J Med. 2005;352:1769-1778.
Description : An epidemiologic cross-sectional survey of over 99,000 patients, reporting on the relationship of HFE gene mutation status with laboratory markers and clinical manifestations of hemochromatosis and iron overload.
PubMed citation number: 15858186
Hemochromatosis mutations in the general population: iron overload progression rate
Andersen RV, Tybjaerg-Hansen A, Appleyard M, Birgens H, Nordestgaard BG.
Blood. 2004;103:2914-2919.
Description: A cohort study, assessing the rate of biochemical and clinical disease progression in asymptomatic C282Y homozgotes identified during population screening; providing the most data thus far, on the natural history of disease in this patient population.
PubMed citation number: 15070663
Pathophysiology
Pathogenesis of hereditary hemochromatosis.
Fleming RE, Britton RS, Waheed A, Sly WS, Bacon BR.
Clin Liver Dis. 2004;8:755-773.
Description: A detailed review of the pathogenesis of hereditary hemochromatosis, with focus on the 2 major hypotheses: the hepcidin hypothesis and the duodenal crypt cell programming hypothesis.
PubMed citation number: 15464654
Redox active plasma iron in C282Y/C282Y hemochromatosis.
Le Lan C, Loreal O, Cohen T, et al.
Blood. 2005;105:4527-4531.
Description: This paper highlights the identification of labile plasma iron as a possible marker of toxicity & end organ damage in C282Y homozygous hemochromatosis, due to it’s potential for catalyzing generation of reactive oxygen radicals.
PubMed citation number: 15671444
A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis.
Feder JN, Gnirke A, Thomas W, et al.
Nature Genetics. 1996;13:399-408.
Description: First characterization of major gene mutated in hereditary hemochromatosis.
PubMed citation number: 9696333
HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.
Mura C, Raguenes O, Ferec C.
Blood. 1999;93:2501-2505.
Description: Genetic analysis that confirms population prevalence of C282Y and H63D mutations and finds previously undescribed S65C missense substitution in 7.8% of non-C282Y and non-H63D probands.
PubMed citation number: 10194428
Review
Hereditary hemochromatosis—a new look at an old disease.
Pietrangelo A.
N Engl J Med. 2004;350:2383-2397.
Description : An important review of the pathogenesis, clinical features, diagnostic work-up (including screening criteria), and therapy for classic HFE-related hereditary hemochromatosis.
PubMed citation number: 15175440
Relation of hemochromatosis with hepatocellular carcinoma: epidemiology, natural history, pathophysiology, screening, treatment, and prevention.
Harrison SA, Bacon BR.
Med Clin North Am. 2005;89:391-409.
Description : A review of hereditary hemochromatosis, with particular focus on its relationship with hepatocellular carcinoma.
PubMed citation number: 15656932
EASL international consensus conference on haemochromatosis.
Adams P, Brissot P, Powell LW.
J Hepatol. 2000;33:485-504.
Description: Excellent and thorough overview of hemochromatosis from a consensus expert panel.
PubMed citation number: 11020008
Neonatal hemochromatosis
Murray KF, Kowdley KV.
Pediatrics. 2001;108:960-964.
Description: Review article.
PubMed citation number: 11581451