Article
Genetics & Heredity
James C. Barton, J. Clayborn Barton, Ronald T. Acton
Summary: This study aimed to evaluate the height of white adults with hemochromatosis. The results showed that there was no association between HFE genotype and height in men, while women with the p.C282Y/p.C282Y genotype had a greater height. No independent association was found between HFE genotype and height in both men and women.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Cell Biology
James C. Barton, J. Clayborn Barton, Ronald T. Acton
Summary: This study examined the association between platelet counts and various factors in white adults with hemochromatosis. The results showed that platelet counts were positively associated with neutrophil, lymphocyte, and monocyte counts, as well as C-reactive protein levels. They were inversely associated with age, transferrin saturation, and hemoglobin levels. HFE genotypes were not significantly associated with platelet counts.
Article
Gastroenterology & Hepatology
James C. Barton, J. Clayborn Barton, Ronald T. Acton
Summary: This study aimed to identify characteristics of non-alcoholic fatty liver disease (NAFLD) in adults with HFE p.C282Y/p.C282Y. The study found that NAFLD was associated with higher serum ferritin levels and a greater prevalence of type 2 diabetes, but did not influence iron removal significantly.
BMC GASTROENTEROLOGY
(2023)
Article
Oncology
Mathias Schneeweiss-Gleixner, Georg Greiner, Susanne Herndlhofer, Julia Schellnegger, Maria-Theresa Krauth, Karoline Gleixner, Friedrich Wimazal, Corinna Steinhauser, Michael Kundi, Renate Thalhammer, Ilse Schwarzinger, Gregor Hoermann, Harald Esterbauer, Manuela Fodinger, Peter Valent, Wolfgang R. Sperr
Summary: Although iron overload is a clinical challenge, little is known about the clinical impact of HFE-variants in myelodysplastic syndromes. The study found that HFE-variants H63D and C282Y are frequently detected in Austrian MDS patients, who have higher ferritin levels at diagnosis, accumulate iron slightly faster, and have a better progression-free survival than non-mutated patients.
AMERICAN JOURNAL OF CANCER RESEARCH
(2021)
Article
Nutrition & Dietetics
Sixtus Aguree, Manju B. Reddy
Summary: Limited evidence suggests dysregulation of serum iron and hepcidin concentrations in obesity and inflammation. This study compared inflammatory markers, serum lipids, and iron status between obese and normal-weight women. Obese women showed higher levels of inflammation, triglycerides, and hepcidin, but lower HDL and serum iron/hepcidin ratio compared to normal-weight women. BMI correlated positively with inflammatory markers, triglycerides, and total cholesterol/HDL ratio, and negatively with HDL and serum iron/hepcidin ratio.
Article
Pathology
Vanessa Bianconi, Massimo R. Mannarino, Filippo Figorilli, Elena Cosentini, Giuseppe Batori, Ettore Marini, Maciej Banach, Amirhossein Sahebkar, Matteo Pirro
Summary: This study evaluated the impact of serum ferritin-to-iron ratio (FIR) on the prognosis of hospitalized patients with COVID-19. The findings showed that higher FIR values were associated with more severe symptoms and increased risk of ICU admission/in-hospital death.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
(2022)
Review
Multidisciplinary Sciences
James C. Barton, J. Clayborn Barton, Neha Patel, Gordon D. McLaren
Summary: This study found that abdominal pain, chronic viral hepatitis, and iron removed by phlebotomy are significantly associated with cirrhosis in referred hemochromatosis probands with HFE p.C282Y homozygosity. Abdominal pain may be influenced by iron-related and non-iron-related factors in addition to its association with cirrhosis.
Article
Genetics & Heredity
James C. Barton, J. Clayborn Barton, Ronald T. Acton
Summary: This study found that an A*03-linked locus does not influence phenotypes in referred HFE p.C282Y homozygotes, suggesting that heritable factors linked to the hemochromatosis ancestral haplotype may not modify the phenotypes of p.C282Y homozygotes.
Article
Biochemistry & Molecular Biology
Robert Szabo, Cristina Petrisor, Constantin Bodolea, Robert Simon, Ioana Maries, Sebastian Tranca, Teodora Mocan
Summary: Inflammation in COVID-19 leads to intracellular iron overload and non-programmed cell death, increasing mortality and morbidity. This study aims to evaluate the predictive values of serologic iron and inflammatory parameters in critically ill COVID-19 patients. The results suggest that iron metabolism parameters and models consisting of multiple variables may predict outcomes. Larger studies are needed to validate these results, but this paper highlights a new research direction.
Review
Cell Biology
David Haschka, Alexander Hoffmann, Guenter Weiss
Summary: Iron plays a crucial role in the interaction between host, pathogen, and immune responses. Restricting iron availability to invading pathogens is a powerful defense mechanism known as nutritional immunity. Iron also influences immune cell function and differentiation, as well as inflammation control.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Danielle S. Kroll, Katherine L. McPherson, Peter Manza, Melanie L. Schwandt, Pei-Hong Shen, David Goldman, Nancy Diazgranados, Gene-Jack Wang, Corinde E. Wiers, Nora D. Volkow
Summary: This study found that individuals with alcohol use disorder (AUD) had higher serum transferrin saturation compared to healthy controls. The genetic variation in HFE rs1799945 was associated with elevated transferrin saturation in both AUD and healthy controls. Serum transferrin saturation can predict alcohol withdrawal severity, suggesting its potential use as a predictor for treatment.
Article
Medicine, General & Internal
Salina Munankami, Shefali Amin, Manish Shrestha, Rubina Paudel, Arpan Pokhrel
Summary: Iron overload disorders can be fatal if left untreated and are often caused by multiple blood transfusions and increased iron absorption, especially hereditary hemochromatosis. Excessive alcohol consumption can disrupt iron metabolism and simulate iron overload disorders, such as hereditary hemochromatosis, particularly in patients with liver cirrhosis. This can lead to severely elevated ferritin levels and transferrin saturation. Recognizing this feature is important to avoid unnecessary treatments and provide timely management for alcoholic hepatitis.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Social Sciences, Interdisciplinary
Mathias Schneeweiss-Gleixner, Georg Greiner, Susanne Herndlhofer, Julia Schellnegger, Maria-Theresa Krauth, Karoline Gleixner, Friedrich Wimazal, Corinna Steinhauser, Michael Kundi, Renate Thalhammer, Ilse Schwarzinger, Gregor Hoermann, Harald Esterbauer, Manuela Foedinger, Peter Valent, Wolfgang R. Sperr
Summary: In this study, HFE-variants H63D and C282Y were frequently detected in Austrian MDS patients, who had higher ferritin levels at diagnosis, accumulated iron slightly faster, and had better progression-free survival than non-mutated patients.
COGENT SOCIAL SCIENCES
(2021)
Article
Clinical Neurology
Kelly B. Mahaney, Chandana Buddhala, Mounica Paturu, Diego M. Morales, Christopher D. Smyser, David D. Limbrick, Santosh E. Gummidipundi, Summer S. Han, Jennifer M. Strahle
Summary: This study found that neonates with severe initial ventriculomegaly had higher initial levels and prolonged clearance of cerebrospinal fluid hemoglobin and hemoglobin degradation products compared to those with moderate initial ventriculomegaly, indicating a more severe early ventricular enlargement.
JOURNAL OF NEUROSURGERY-PEDIATRICS
(2022)
Article
Hematology
Niteesh Bharadwaj, Srinivasan Peyam, Prateek Bhatia, Anmol Bhatia, Reena Das, Minu Singh, Deepak Bansal, Amita Trehan, Richa Jain
Summary: This study found no mutations in the HAMP gene or HFE-1 hotspots in NTDT patients, but detected single nucleotide variations in the HFE-2 gene in a small number of patients. However, these variations did not significantly lead to iron overload.
INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION
(2022)
Review
Biochemistry & Molecular Biology
Sheridan L. Helman, Jie Zhou, Brie K. Fuqua, Yan Lu, James F. Collins, Huijun Chen, Christopher D. Vulpe, Gregory J. Anderson, David M. Frazer
Summary: The mammalian multicopper ferroxidases (MCFs), including ceruloplasmin, hephaestin, and zyklopen, play crucial roles in maintaining iron homeostasis in the body. They function in oxidizing, releasing, and absorbing iron ions, and have various physiological functions in different tissues. Apart from their iron-related roles, they also have other physiological functions, although many of them are not well-defined.
Article
Gastroenterology & Hepatology
Phillip E. E. Melton, M. A. Burton, K. A. Lillycrop, K. M. Godfrey, S. Rauschert, D. Anderson, G. C. Burdge, T. A. Mori, L. J. Beilin, O. T. Ayonrinde, J. M. Craig, J. K. Olynyk, J. D. Holbrook, C. E. Pennell, W. H. Oddy, E. K. Moses, L. A. Adams, R. C. Huang
Summary: Through DNA methylation epigenome-wide association study, we identified novel DNA methylation loci associated with NAFLD and serum liver biochemistry markers during adolescence, implicating putative dmCpG/gene regulatory pathways and providing insights for future mechanistic studies.
HEPATOLOGY INTERNATIONAL
(2023)
Article
Respiratory System
Carla Colombo, Grant A. Ramm, Anders Lindblad, Fabiola Corti, Luigi Porcaro, Federico Alghisi, Irina Asherova, Helen Evans, Nataliya Kashirskaya, Elena Kondratyeva, Peter J. Lewindon, Isabelle de Monestrol, Mark Oliver, Chee Y. Ooi, Rita Padoan, Sahana Shankar, Gianfranco Alicandro
Summary: Cystic-fibrosis-related liver disease (CFLD) is a variable phenotype of CF. CFTR modulator therapies, elexacaftor, tezacaftor, and ivacaftor (ETI), and ivacaftor (IVA), are available for CF patients. Genetic eligibility evaluation showed that 13% of patients without CFLD and 11% of patients with severe CFLD are not eligible for ETI or IVA therapy. Ineligible patients cannot benefit from these new treatments.
JOURNAL OF CYSTIC FIBROSIS
(2023)
Review
Hematology
Khai Li Chai, Jonathan Wong, Robert Weinkove, Anastazia Keegan, Philip Crispin, Simon Stanworth, C. Orla Morrissey, Erica M. Wood, Zoe K. McQuilten
Summary: Acquired hypogammaglobulinemia is common in CLL, NHL, and MM patients. This study aimed to evaluate the efficacy and safety of prophylactic immunoglobulin, antibiotics, and vaccination in preventing infection. The results showed that prophylactic immunoglobulin and vaccination reduced the risk of infection, while prophylactic antibiotics did not have a significant effect.
Editorial Material
Gastroenterology & Hepatology
Darrell H. G. Crawford, Grant A. Ramm, Kim R. Bridle, Amanda J. Nicoll, Martin B. Delatycki, John K. Olynyk
HEPATOLOGY INTERNATIONAL
(2023)
Letter
Medicine, General & Internal
Daniel Clayton-Chubb, Andrew Buckle, Tissa Tandiari, Patrick Hosking, Amanda J. Nicoll
INTERNAL MEDICINE JOURNAL
(2023)
Article
Gastroenterology & Hepatology
Shruti Sakhuja, Heather M. Staples, Charles G. Minard, Louise E. Ramm, Peter J. Lewindon, Grant A. Ramm, Daniel H. Leung
Summary: This study aimed to evaluate the clinical utility of lung function and liver biomarkers assessed years prior to liver biopsy-proven CFLD in predicting the risk of severe fibrosis development. The findings suggest that mild-moderate pulmonary dysfunction and higher liver biomarker indices at baseline may be associated with faster progression of CFLD.
LIVER INTERNATIONAL
(2023)
Article
Hematology
Surendra Karki, Katy J. L. Bell, Andrew Hayen, Bette Liu, Anne E. E. Cust, John K. K. Olynyk, David O. O. Irving
Summary: Through a study on blood donors and adjusting for potential confounders, it was found that regular and high-frequency blood donation does not significantly reduce the risk of cardiovascular diseases.
Editorial Material
Hematology
Erica M. Wood, Barbee Whitaker, Mary Townsend
Article
Multidisciplinary Sciences
John K. Olynyk, Richard Grainger, Helen Currie, Louise E. Ramm, Grant A. Ramm
Summary: HLA-A3 and HLA-B7 alleles are not associated with the risk of advanced hepatic fibrosis or cirrhosis in C282Y hemochromatosis, according to a study involving 133 individuals with HFEC282Y homozygous. HLA typing and liver biopsies were conducted to determine the severity of fibrosis.
SCIENTIFIC REPORTS
(2023)
Article
Oncology
N. Dianah B. Abu Bakar, Rodrigo Carlessi, Jully Gogoi-Tiwari, Julia Kohn-Gaone, Vincent Williams, Marco Falasca, John K. Olynyk, Grant A. Ramm, Janina E. E. Tirnitz-Parker
Summary: The TWEAK/Fn14 signalling pathway plays a crucial role in tissue injury and regeneration, and its involvement in pancreatic injury and cancer is not well understood. This study demonstrates that TWEAK/Fn14 signalling is important in the establishment and progression of chronic pancreatitis, increasing the risk of pancreatic cancer. The findings suggest the TWEAK/Fn14 pathway as a potential therapeutic target.
Article
Multidisciplinary Sciences
Eva Stadler, Martin T. Burgess, Timothy E. Schlub, Shanchita R. Khan, Khai Li Chai, Zoe K. McQuilten, Erica M. Wood, Mark N. Polizzotto, Stephen J. Kent, Deborah Cromer, Miles P. Davenport, David S. Khoury
Summary: Multiple monoclonal antibodies have been effective for both prophylaxis and therapy for SARS-CoV-2 infection. This study aggregates data from randomized controlled trials to model the dose-response relationship of monoclonal antibodies for prophylaxis. The estimated 50% protection from COVID-19 is achieved with a concentration of 96-fold of the in vitro IC50.
NATURE COMMUNICATIONS
(2023)
Article
Oncology
Sabrina Wang, Farhana Sultana, Anne Kavanagh, Carolyn Nickson, Amalia Karahalios, Lyle C. Gurrin, Dallas R. English
Summary: This study aimed to quantify the impact of mammographic screening on breast cancer mortality and overdiagnosis. The results showed that women who participate in Australia's national screening program have lower breast cancer mortality, but some screen-detected cancers may be overdiagnosed.