ALLMedicine™ Hemochromatosis Center - Clinicaltrials.gov
Bruce R. Bacon
Jun 30th, 2011 - Hereditary hemochromatosis (HH) remains the most common, identified, genetic disorder in Caucasians. Although its geographic distribution is worldwide, it is seen most commonly in populations of northern European origin, particularly Nordic or Celtic ancestry, in which it occurs with a prevalence of approximately 1 per 220-250 individuals.
Adams, P.,et al.
Mar 30th, 2018 - Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an objective, simple, brief, and practical set of recommendations about therapeutic aspects of HFE hemochromatosis for p.
Apr 2nd, 2019 - Types of DTC genetic tests A broad range of genetic test types are offered DTC, including: Carrier testing for diseases such as cystic fibrosis and hemochromatosis Pharmacogenomic testing Testing for predisposition to complex diseases such as hereditary cancers, cardiovascular disease and depression Whole exome or genome sequencing Testing to determine ancestry
Mar 31st, 2019 - Incidence and mortality rates for cancer overall are declining, but both incidence and mortality rates for hepatocellular carcinoma (HCC) are increasing.1,2 Risk factors for development of HCC include infection with hepatitis B virus (HBV) and/or hepatitis C virus (HCV), and cirrhosis of the liver (eg, alcohol cirrhosis).3 Metabolic disorders (ie, obesity, diabetes, impaired glucose metabolism,...
The American Journal of Gastroenterology; Kwo,P.,et al
Jun 30th, 2017 - Clinicians are required to assess abnormal liver chemistries on a daily basis. The most common liver chemistries ordered are serum alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase and bilirubin. These tests should be termed liver chemistries or liver tests. Hepatocellular injury is defined as disproportionate elevation of AST and ALT levels compared with al...
Jul 31st, 2017 - Laboratory assessment of the patient with suspected or clinically obvious liver disease is context dependent. For example, the acutely ill jaundiced patient with a history of prolonged alcohol ingestion requires a different laboratory assessment than the well patient in whom one or more standard liver test results are discovered to be abnormal during routine testing. Additionally, the sequence ...
Aug 1st, 2019 - 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, management, and treatment of HH. The availability of molecular diagnostic testing for HH has made possible confirmation of the diagnosis for most patients. Several genotype-phenotype correlation studies have clarified the diffe...
Blood Casu C, Nemeth E et. al.
Mar 10th, 2018 - Hepcidin agonists are a new class of compounds that regulate blood iron levels, limit iron absorption, and could improve the treatment of hemochromatosis, β-thalassemia, polycythemia vera, and other disorders in which disrupted iron homeostasis causes or contributes to disease. Hepcidin agonists also have the potential to prevent severe complications of siderophilic infections in patients with ...
Clinical Gastroenterology and Hepatology : the Official C... Bardou-Jacquet E, Morandeau E et. al.
Oct 17th, 2019 - Fibrosis stage can decrease following treatment in patients with hemochromatosis caused by mutations in the homeostatic iron regulator gene (HFE), but the effects on cirrhosis are not clear. We assessed regression of severe fibrosis and the ensuing risk of liver cancer after treatment. We performed a retrospective analysis of data from 106 patients in France or Australia who were homozygous for...
The American Journal of Gastroenterology; Kowdley KV, Brown KE et. al.
Jul 24th, 2019 - 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, management, and treatment of HH. The availability of molecular diagnostic testing for HH has made possible confirmation of the diagnosis for most patients. Several genotype-phenotype correlation studies have clarified the diffe...
Transfusion Sut C, Hamzeh-Cognasse H et. al.
Nov 3rd, 2016 - Red blood cells (RBCs) contain large amounts of iron, and periodic therapeutic phlebotomy is thus the main treatment for hereditary hemochromatosis (HH). However, the donation of therapeutic phlebotomy products from asymptomatic patients for transfusion purposes remains controversial. In this study, we compared the quality of RBCs obtained from HH patients with those of non-HH RBCs, within the ...
Clinics in Liver Disease; Salgia RJ, Brown K
Dec 2nd, 2014 - Hereditary hemochromatosis is a rare genetic disorder that can have significant clinical consequences. Hemochromatosis is associated with iron overload, and can initially be recognized through laboratory testing for serum ferritin and transferrin saturation. Genetic testing for the HFE mutation can be performed in patients with elevated iron indices and a suspicion for hemochromatosis or liver ...
Seminars in Arthritis and Rheumatism; Wang Y, Gurrin LC et. al.
Jan 2nd, 2012 - The evidence for an association between mutations in the HFE (hemochromatosis) gene and the risk of hip or knee osteoarthritis is inconsistent. Total joint replacement is considered a surrogate measure for symptomatic end-stage osteoarthritis. We examined the relationship between HFE gene mutations and risk of total hip and knee replacement using a prospective cohort study. The Melbourne Collab...
Pediatrics Debray FG, de Halleux V et. al.
Mar 6th, 2012 - Gestational alloimmune liver disease has emerged as the major cause of antenatal liver injury and failure. It usually manifests as neonatal liver failure with hepatic and extrahepatic iron overload, a clinical presentation called neonatal hemochromatosis. We report on a newborn in whom fetal hepatomegaly was detected during pregnancy and who presented at birth with liver cirrhosis and mild live...
Haematologica Pelucchi S, Mariani R et. al.
Jul 9th, 2012 - Most patients with hereditary hemochromatosis in the Caucasian population are homozygous for the p.C282Y mutation in the HFE gene. The penetrance and expression of hereditary hemochromatosis differ largely among cases of homozygous p.C282Y. Genetic factors might be involved in addition to environmental factors. In the present study, we analyzed 50 candidate genes involved in iron metabolism and...
Gastroenterology Pietrangelo A
Jun 14th, 2010 - 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 polymorphism that is common among white people: a 845G-->A change in HFE that results in C282Y in the gene product. Hemochromatosis is now a well-defined syndrome characterized by normal iron-driven erythropoiesis...
Seminars in Liver Disease; Whitington PF
Feb 11th, 2013 - Neonatal hemochromatosis (NH) is a clinical syndrome consisting of liver disease and pathologic siderosis of various extrahepatic tissues. NH is a form of secondary hemochromatosis in which severe fetal liver injury causes iron overload due to poor regulation of maternofetal iron flux. Gestational alloimmune liver disease (GALD) has been established as the cause of fetal liver injury resulting ...
Arthritis Care & Research; Elmberg M, Hultcrantz R et. al.
Nov 9th, 2012 - Genetic hemochromatosis (GH) is an autosomal recessive disease in individuals of Northern and Western European descent. Heterozygosity for the C282Y mutation is common (6-20%). Arthropathy is one of the few complications of GH suggested not to be associated with iron body stores; synovial iron deposition remains in iron-depleted patients. Previous studies suggest an elevated prevalence of clini...
Hepatology (Baltimore, Md.); Olynyk JK, Trinder D et. al.
Aug 29th, 2008 - Following the discovery of the HFE gene in 1996 and its linkage to the iron overload disorder hereditary hemochromatosis (HH) there have been profound developments in our understanding of the pathogenesis of the biochemical and clinical manifestations of a number of iron overload disorders. This article provides an update of recent developments and key issues relating to iron homeostasis and in...
Hepatology (Baltimore, Md.); Pan X, Kelly S et. al.
May 31st, 2010 - Evidence suggests that most neonatal hemochromatosis (NH) is the phenotypic expression of gestational alloimmune fetal liver injury. Gestational alloimmune diseases are induced by the placental passage of specific reactive immunoglobulin G and often involve the activation of fetal complement by the classical pathway leading to the formation of membrane attack complex (MAC) as the effector of ce...