Haemochromatosis

P Brissot, A Pietrangelo, PC Adams… - Nature reviews Disease …, 2018 - nature.com
Haemochromatosis is defined as systemic iron overload of genetic origin, caused by a
reduction in the concentration of the iron regulatory hormone hepcidin, or a reduction in …

Disorders of iron metabolism

NC Andrews - New England Journal of Medicine, 1999 - Mass Medical Soc
Iron has the capacity to accept and donate electrons readily, interconverting between ferric
(Fe2+) and ferrous (Fe3+) forms. This capability makes it a useful component of …

Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment

A Pietrangelo - Gastroenterology, 2010 - Elsevier
In the late 1800s, hemochromatosis was considered an odd autoptic finding. More than a
century later, it was finally recognized as a hereditary, multi-organ disorder associated with a …

[HTML][HTML] Iron management in chronic kidney disease: conclusions from a “Kidney Disease: Improving Global Outcomes”(KDIGO) Controversies Conference

IC Macdougall, AJ Bircher, KU Eckardt, GT Obrador… - Kidney international, 2016 - Elsevier
Before the introduction of erythropoiesis-stimulating agents (ESAs) in 1989, repeated
transfusions given to patients with end-stage renal disease caused iron overload, and the …

Hereditary hemochromatosis—a new look at an old disease

A Pietrangelo - New England Journal of Medicine, 2004 - Mass Medical Soc
For many years, hereditary hemochromatosis was regarded as a clinically and genetically
unique entity marked by a classic presentation consisting of diabetes, bronze skin …

AGA technical review on the evaluation of liver chemistry tests

RM Green, S Flamm - Gastroenterology, 2002 - Elsevier
The widespread availability and frequent use of serum chemistry tests have resulted in a
dramatic increase in the number of normal and abnormal liver chemistry test values that …

[HTML][HTML] Ferroportin-mediated iron transport: expression and regulation

DM Ward, J Kaplan - Biochimica et Biophysica Acta (BBA)-Molecular Cell …, 2012 - Elsevier
The distinguishing feature between iron homeostasis in single versus multicellular
organisms is the need for multicellular organisms to transfer iron from sites of absorption to …

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22

C Camaschella, A Roetto, A Calì, M De Gobbi… - Nature …, 2000 - nature.com
Haemochromatosis is a common recessive disorder characterized by progressive iron
overload, which may lead to severe clinical complications. Most patients are homozygous for …

Iron homeostasis: insights from genetics and animal models

NC Andrews - Nature reviews genetics, 2000 - nature.com
Disorders that perturb iron balance are among the most prevalent human diseases, but until
recently iron transport remained poorly understood. Over the past five years, genetic studies …

HFE Gene and Hereditary Hemochromatosis: A HuGE Review

EH Hanson, G Imperatore… - American journal of …, 2001 - academic.oup.com
Hereditary hemochromatosis (HHC) is an autosomal recessive disorder of iron metabolism
characterized by increased iron absorption and deposition in the liver, pancreas, heart …