Pietrangelo, A.
April 2006
Gut;Apr2006, Vol. 55 Issue 4, p564
Academic Journal
The article discusses a pathogenic model for hemochromatosis (HC), an autosomal recessive disorder of iron metabolism characterized by tissue iron overload potentially leading to multiorgan disease. It details the functions of four HC genes: HFE, transferrin receptor 2, HJV and HAMP. It also examines the role of the interaction of HFE with transferrin receptor 1 genes in the pathogenesis of HC.


Related Articles

  • Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data. Scotet, Virginie; Gac, Gerald Le; Merour, Marie-Christine; Mercier, Anne-Yvonne; Chanu, Brigitte; Ka, Chandran; Mura, Catherine; Nousbaum, Jean-Baptiste; Ferec, Claude // BMC Medical Genetics;2005, Vol. 6, p1 

    Background: Hereditary hemochromatosis (HH) is a common inherited disorder of iron metabolism in Northern European populations. The discovery of a candidate gene in 1996 (HFE), and of its main mutation (C282Y), has radically altered the way to diagnose this disease. The aim of this study was to...

  • COMPARATIVE EVALUATION OF IRON OVERLOAD IN PATIENTS WITH CHRONIC LIVER DISEASE. Radicheva, M. // Trakia Journal of Sciences;2011, Vol. 9 Issue 1, p10 

    Objective: To assess and compare the presence and significance of iron overload in patients with chronic liver disease. Methods: The study of 220 patients with chronic liver diseases, which were examined for frequency and correlation between elevated liver enzymes, ultrasound diagnosed...

  • Too Much Iron.  // American Fitness;Jan/Feb2011, Vol. 29 Issue 1, p59 

    The article presents information on the disorder called hemochromatosis where the sufferers absorb more of the iron in their diet causing an iron buildup in the body.

  • IRON CONTENT OF BRUNNER'S GLANDS IN ACQUIRED HEMOSIDEROSIS. Cane, Walter // American Journal of Gastroenterology;Jun1969, Vol. 51 Issue 6, p539 

    Presents an abstract of the study "Iron Content of Brunner's Glands in Acquired Hemosiderosis," by G. Astaldi, P. L. Taverna, G. Meardi and R. Airo.

  • haemosiderosis. Peters, Michael // BMA A-Z Family Medical Encyclopedia;2004, p357 

    A definition of the term "haemosiderosis" is presented. This term refers to a condition characterized by an increase in iron in the body. This disorder may be caused by repeated blood transfusions and excessive iron intake.

  • AceruIopIasminaemia with progressive atrophy without brain iron overload: treatment with oral chelation. Skidmore, F M; Drago, V; Foster, P; Schmalfuss, I M; Heilman, K M; Streiff, R A // Journal of Neurology, Neurosurgery & Psychiatry;Apr2008, Vol. 79 Issue 4, p467 

    Background: Hereditary aceruloplasminaemia is a disorder of iron metabolism that is characterised by iron accumulation in the brain and other visceral organs. In previously reported cases, individuals with the disorder were noted to have evidence of iron accumulation in the brain. Oral chelating...

  • HFE-Related Hemochromatosis: The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype. Le Gac, Gérald; Ka, Chandran; Gourlaouen, Isabelle; Bryckaert, Laurence; Mercier, Anne-Yvonne; Chanu, Brigitte; Scotet, Virginie; Férec, Claude // Advances in Hematology;2009, Vol. 2009, p1 

    Phenotypic expression of the common p.C282Y/p.C282Y HFE-related hemochromatosis genotype is heterogeneous and depends on a complex interplay of genetic and non-genetic factors. Haptoglobin has a crucial role in free hemoglobin iron recovery, and exists as three major types: Hp1-1, Hp2-1 and...

  • Information from Your Family Doctor. Hereditary Hemochromatosis.  // American Family Physician;3/1/2002, Vol. 65 Issue 5, p865 

    Presents information on hereditary hemochromatosis, a health problem that is passed from parents to children where the body stores too much iron. Causes of the disease; Other causes of iron overload; How a doctor diagnoses hemochromatosis; Treatment options.

  • Hereditary Hemochromatosis: Pathogenesis and Clinical Features of a Common Disease. Nichols, Gary M.; Bacon, Bruce R. // American Journal of Gastroenterology;Aug1989, Vol. 84 Issue 8, p851 

    Hereditary hemochromatosis (HHC) is a common inherited disorder of iron metabolism characterized by excessive iron absorption and the toxic accumulation of iron in parenchymal cells. Homozygous inheritance of an abnormality on chromosome 6 causes this disorder by increasing the intestinal...


Read the Article


Sign out of this library

Other Topics