Remarkable advances in understanding the pathogenesis of hereditary hemochromatosis have been made since 1996, the year in which the HFE gene, which is responsible for the vast majority of cases, was discovered. The recognition of the central role of the iron regulatory hormone hepcidin in the pathogenesis of hereditary hemochromatosis has been particularly significant. In addition to HFE, defe...

from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be reflected in this document. Changes may have been made to this work since it was submitted for publication. Abstract Iron abnormalities within the brain are associated with several rare but severe neurodegenerative conditions. There is growing evidence t...

BACKGROUND Inadequate hepcidin production leads to iron overload in nearly all types of hemochromatosis. We explored the acute response of hepcidin to iron challenge in 25 patients with HFE-hemochromatosis, in two with TFR2-hemochromatosis and in 13 controls. Sixteen patients (10 C282Y/C282Y homozygotes, 6 C282Y/H63D compound heterozygotes) had increased iron stores, while nine (6 C282Y/C282Y h...

It is not unusual for a disease to be considered rare when first described and to prove to be much more prevalent as the medical profession becomes aware of its existence. This seemed to be the case with hereditary hemochromatosis. But now the perception that hemochromatosis is a common disease has undergone a sudden reversal. Although everyone does not yet agree, the data that have accumulated...

In the current classifications of diabetes by the American Diabetes Association (ADA) (2006) (1) and the World Health Organization (WHO) (1999) (2), hereditary hemochromatosis is listed under the heading “diseases of the exocrine pancreas”; however, this classification does not comply with the current evidence of diabetes secondary to iron overload. The common form of hereditary hemochromatosis...

Abstract Objective : Hereditary hemochromatosis, or primary is a recessive genetic liver disorder caused by iron accumulation in tissues. This study evaluates patients with hereditary hemochromatosis to determine correlations between clinical and laboratory data. Methods The data analyzed this was gathered from the discharge records 2019 2021 of Gastroenterology Department Mures Country Emergen...

A 66-year-old male patient presented with a 4-month history of progressive muscle weakness. Twelve years prior to presentation he was evaluated for fatigue, weight loss, new-onset diabetes and elevated liver enzymes and was diagnosed with hereditary hemochromatosis, homozygous for the C282Y mutation in the HFE gene. His total iron at diagnosis was 137 mcg/dL; iron binding capacity, 149 mcg/dL; ...

A positive iron balance inevitably leads to iron overload. 1 Excluding red blood cell transfusion, iron loading usually reflects an altered mucosal regulation of iron absorption, observed both in genetic conditions not associated with anemia and in iron-loading anemias. 2,3 The best characterized form of genetic iron overload is a common recessive HLA-linked disorder, initially called idiopathi...

A patient with coexistent hemochromatosis and alpha-1-antitrypsin deficiency which led to cirrhosis and death despite adequate therapy for hemochromatosis is reported. Evaluation of the family revealed first degree relatives with iron overload and others with alpha-1-antitrypsin deficiency but none with both conditions. The role of family studies in the early recognition and possible prevention...