ACG clinical guideline: hereditary hemochromatosis

KV Kowdley, KE Brown, J Ahn… - Official journal of the …, 2019 - journals.lww.com
Hereditary hemochromatosis (HH) is one of the most common genetic disorders among
persons of northern European descent. There have been recent advances in the diagnosis …

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 …

[PDF][PDF] Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases

BR Bacon, PC Adams, KV Kowdley, LW Powell… - …, 2011 - Wiley Online Library
To more fully characterize the available evidence supporting the recommendations, the
AASLD Practice Guidelines Committee has adopted the classification used by the Grading …

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 …

[HTML][HTML] Iron-Overload–Related Disease in HFE Hereditary Hemochromatosis

KJ Allen, LC Gurrin, CC Constantine… - … England Journal of …, 2008 - Mass Medical Soc
Background Most persons who are homozygous for C282Y, the HFE allele most commonly
asssociated with hereditary hemochromatosis, have elevated levels of serum ferritin and …

EASL clinical practice guidelines for HFE hemochromatosis

European Association For The Study Of The Liver - Journal of hepatology, 2010 - Elsevier
Iron overload in humans is associated with a variety of genetic and acquired conditions. Of
these, HFE hemochromatosis (HFE-HC) is by far the most frequent and most well-defined …

[HTML][HTML] Analysis of clinically relevant variants from ancestrally diverse Asian genomes

SH Chan, Y Bylstra, JX Teo, JL Kuan, N Bertin… - Nature …, 2022 - nature.com
Asian populations are under-represented in human genomics research. Here, we
characterize clinically significant genetic variation in 9051 genomes representing East …

[PDF][PDF] Relative contribution of iron burden, HFE mutations, and insulin resistance to fibrosis in nonalcoholic fatty liver

E Bugianesi, P Manzini, S D'Antico, E Vanni… - …, 2004 - Wiley Online Library
The mechanism (s) determining the progression from fatty liver to steatohepatitis is currently
unknown. Our goal was to define the relative impact of iron overload, genetic mutations of …

Genetics, genetic testing, and management of hemochromatosis: 15 years since hepcidin

A Pietrangelo - Gastroenterology, 2015 - Elsevier
The discovery of hepcidin in 2000 and the subsequent unprecedented explosion of research
and discoveries in the iron field have dramatically changed our understanding of human …

Deferasirox reduces serum ferritin and labile plasma iron in RBC transfusion–dependent patients with myelodysplastic syndrome

AF List, MR Baer, DP Steensma, A Raza… - Journal of clinical …, 2012 - ascopubs.org
Purpose This 3-year, prospective, multicenter trial assessed the safety and efficacy of
deferasirox in low-or intermediate-1–risk myelodysplastic syndrome (MDS). Patients and …