Editorial Material
Hematology
Nermi L. Parrow, Robert E. Fleming
Summary: In this study, the researchers found that the hemochromatosis protein HFE is necessary for the involvement of hepatocellular transferrin receptor 1 (TFR1) in the regulation of iron metabolism and erythropoiesis. This regulation is crucial for maintaining iron balance and normal red blood cell production. The disruption of this regulation contributes to iron-loading anemias and erythropoietin resistance. The identification of the sensors responsible for these processes provides potential targets for therapeutic interventions.
Article
Genetics & Heredity
Gonzalo Hernandez, Xenia Ferrer-Cortes, Veronica Venturi, Melina Musri, Martin Floor Pilquil, Pau Marc Munoz Torres, Ines Hernandez Rodriguez, Maria Angels Ruiz Minguez, Nicholas J. Kelleher, Sara Pelucchi, Alberto Piperno, Esther Plensa Alberca, Georgina Gener Ricos, Eloi Canamero Giro, Santiago Perez-Montero, Cristian Tornador, Jordi Villa-Freixa, Mayka Sanchez
Summary: This article describes six new patients of non-HFE related hereditary hemochromatosis, with two families having novel nonsense mutations in the HFE2 gene and three families having mutations in the TFR2 gene. These rare cases highlight the importance of early molecular diagnosis in a specialized center to prevent serious clinical complications.
Article
Genetics & Heredity
Wei Zhang, Yanmeng Li, Anjian Xu, Qin Ouyang, Liyan Wu, Donghu Zhou, Lina Wu, Bei Zhang, Xinyan Zhao, Yu Wang, Xiaoming Wang, Weijia Duan, Qianyi Wang, Hong You, Jian Huang, Xiaojuan Ou, Jidong Jia
Summary: This study identified a series of novel candidate non-HFE mutations in Chinese patients with hereditary hemochromatosis, providing insights into the genetic basis of unexplained primary iron overload.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Review
Gastroenterology & Hepatology
Alla Turshudzhyan, David C. Wu, George Y. Wu
Summary: Iron homeostasis is a complex process involving tightly balanced iron uptake and use. HFE gene mutations are the major cause of primary Type 1 hemochromatosis, while non-HFE hemochromatosis involves other genes such as HJV, HAMP, TFR2, and SLC40A1. Non-HFE hemochromatosis is rare but can cause severe iron overload. Diagnosis is made by ruling out HFE mutations and assessing history, physical examination, laboratory values, imaging, and liver biopsy if necessary. Early treatment with phlebotomy is important to prevent irreversible damage and chronic liver disease.
JOURNAL OF CLINICAL AND TRANSLATIONAL HEPATOLOGY
(2023)
Article
Gastroenterology & Hepatology
Luke C. Pilling, Janice L. Atkins, David Melzer
Summary: This study found that common genetic variants may influence the disease risk for individuals carrying HFE gene mutations, including liver fibrosis, liver cancer, osteoarthritis, and diabetes.
Review
Genetics & Heredity
Joerg Schmidtke
Summary: Hereditary hemochromatosis is a common and preventable disease that can be effectively managed through phlebotomy. Despite the numerous studies conducted in the past 25 years, no professional body has reversed the decision against population-wide screening, leaving HH a life-threatening condition often undetected at a curable stage.
Article
Pediatrics
Luca Filippi, Sara Tamagnini, Francesca Lorenzoni, Anna Caciotti, Amelia Morrone, Rosa Scaramuzzo
Summary: This is a case report of a newborn with rapid liver failure, cholestatic jaundice, and low gamma-glutamyl transpeptidase. Genetic tests revealed a homozygous mutation of the HFE gene. Although more research is needed, this experience suggests that hereditary hemochromatosis could have played a role in inducing cholestasis.
FRONTIERS IN PEDIATRICS
(2022)
Article
Hematology
Xia Xiao, Gillian A. Moschetta, Yang Xu, Allison L. Fisher, Victor M. Alfaro-Magallanes, Som Dev, Chia-Yu Wang, Jodie L. Babitt
Summary: This study investigated the role of transferrin receptor 1 (TfR1) in cellular iron uptake and its interaction with the HFE protein to regulate hepcidin production. The results showed that hepatocyte TfR1 function depends on HFE and contributes to hepcidin suppression and iron overload in beta-thalassemia. The study also demonstrated the modulatory effect of serum iron on hepcidin regulation by hepatocyte TfR1.
Article
Medicine, General & Internal
Emmanuelle Albalat, Thibault Cavey, Patricia Leroyer, Martine Ropert, Vincent Balter, Olivier Loreal
Summary: Hereditary hemochromatosis is a genetic iron overload disease caused by a mutation in the HFE gene. Using Hfe(-/-) mice, this study found that the concentration of iron and stable isotope composition increased in the liver and red blood cells, but not in the spleen. The results suggest that the increase in whole blood isotope composition in hemochromatosis patients is mainly due to the release of heavy isotope-enriched iron from the liver, rather than increased dietary iron absorption.
FRONTIERS IN MEDICINE
(2021)
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
Biochemistry & Molecular Biology
Francesca M. Alves, Marissa K. Caldow, Sheridan L. Helman, Scott Ayton, Ashley Bush, Gordon S. Lynch, David M. Frazer, Rene Koopman
Summary: By studying the skeletal muscles of aged mice, we found that hereditary hemochromatosis is associated with increased iron content and decreased proteins related to oxidative metabolism, providing insights into the biochemical pathology underlying the common symptoms of fatigue and reduced exercise tolerance.
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
(2022)
Article
Gastroenterology & Hepatology
Hannes Hagstrom, Nelson Ndegwa, Molly Jalmeus, Mattias Ekstedt, Iris Posserud, Fredrik Rorsman, Nils Nyhlin, Daniel Klintman, Marten Werner, Hanns-Ulrich Marschall, Johan Askling, Per Stal
Summary: In Sweden, patients with HFE gene mutations were found to have an increased risk for hepatocellular carcinoma, hereditary haemochromatosis, cirrhosis, type 2 diabetes, osteoarthritis, and death during long-term follow-up, with excess mortality seen in men. No increased risk was observed for colorectal or breast cancer.
LIVER INTERNATIONAL
(2021)
Article
Medicine, General & Internal
Tansu Eris, Ahmet Mert Yanik, Derya Demirtas, Asu Fergun Yilmaz, Tayfur Toptas
Summary: Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare genetic condition characterized by persistent hyperferritinemia without tissue iron overload, and it is often unknown to clinicians. This report presents a case of a 40-year-old woman who was misdiagnosed with hereditary hemochromatosis but was later recognized to have HHCS. The objective of this report is to increase clinical awareness about HHCS and prevent adverse medical interventions in HHCS patients.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Cell Biology
Yukitaka Shizukuda, Douglas R. Rosing
Summary: Hereditary hemochromatosis with the homozygous C282Y HFE mutation (HH-282H) is a genetic condition that leads to iron overload and elevated reactive oxygen species (ROS) levels. Even after successful iron removal therapy, patients with HH-282H still have chronically elevated ROS levels. This review proposes using HH-282H patients as a clinical model to assess the impact of elevated ROS on the development of cardiovascular diseases and to identify effective anti-ROS interventions.
MOLECULAR AND CELLULAR BIOCHEMISTRY
(2023)
Article
Hematology
Domenico Girelli, Fabiana Busti, Pierre Brissot, Ioav Cabantchik, Martina U. Muckenthaler, Graca Porto
Summary: Hemochromatosis is a genetically heterogenous disorder characterized by uncontrolled intestinal iron absorption leading to iron overload and potentially life-threatening complications. Recent research has identified mutations in at least 5 genes as the main cause of the disease, affecting hepcidin production or action.
Article
Hematology
Marisa Silva, Sofia Vargas, Andreia Coelho, Emanuel Ferreira, Joana Mendonca, Luis Vieira, Raquel Maia, Alexandra Dias, Teresa Ferreira, Anabela Morais, Isabel Mota Soares, Joao Lavinha, Rita Silva, Paula Kjollerstrom, Paula Faustino
BLOOD CELLS MOLECULES AND DISEASES
(2020)
Article
Biochemistry & Molecular Biology
Brigida Santos, Mariana Delgadinho, Joana Ferreira, Isabel Germano, Armandina Miranda, Ana Paula Arez, Paula Faustino, Miguel Brito
MOLECULAR BIOLOGY REPORTS
(2020)
Article
Medicine, General & Internal
Laura Aguiar, Ildegario Semente, Joana Ferreira, Andreia Carvalho, Alda P. Silva, Cristina Caroca, Helena Caria, Albertino Damasceno, Maria J. Laires, Luis Sardinha, Cristina Monteiro, Mario R. Mascarenhas, Paula Faustino, Angela Inacio, Manuel Bicho
Summary: This study compared genotype frequencies between South-West Europe and Peri-equatorial Africa in genes modulating blood pressure, finding significant differences in five genetic variants. Results suggest that extreme heat and humidity in Peri-equatorial Africa are associated with increased sodium loss, contributing to selected compensatory mechanisms as risk factors for hypertension.
AFRICAN HEALTH SCIENCES
(2021)
Article
Hematology
Marisa Silva, Andreia Coelho, Sofia Vargas, Paula Faustino
Summary: Endothelial dysfunction plays a major role in systemic vasculopathy in sickle cell anemia, leading to upregulation of adhesion molecules, decreased nitric oxide bioavailability, and increased oxidative stress. This study investigated the regulation of endothelial gene expression by pro-inflammatory and pro-oxidative stimuli, as well as the effect of hydroxyurea treatment.
BLOOD CELLS MOLECULES AND DISEASES
(2022)
Article
Biochemistry & Molecular Biology
Isabel Germano, Brigida Santos, Mariana Delgadinho, Catarina Ginete, Pedro Lopes, Ana Paula Arez, Miguel Brito, Paula Faustino
Summary: This study investigates the genetic modulators of anemia severity, chronic hemolytic rate, and clinical manifestations in pediatric SCA patients from Angola, highlighting the importance of genetic modifiers of vascular cell adhesion and nitric oxide metabolism in SCA pediatric phenotypic variability in the Angolan population.
MOLECULAR BIOLOGY REPORTS
(2022)
Article
Medicine, General & Internal
Daniela Santos, Marta Barreto, Irina Kislaya, Joana Mendonca, Miguel P. Machado, Pedro Lopes, Carlos Matias Dias, Paula Faustino
Summary: The aim of this study was to determine the contribution of 13- and alpha-thalassemia to microcytosis and hypochromia in adult individuals living in Portugal. The results showed that 37% of the investigated cases had thalassemia trait, indicating that thalassemia is a frequent cause of microcytosis and hypochromia in Portugal.
ACTA MEDICA PORTUGUESA
(2023)
Proceedings Paper
Computer Science, Artificial Intelligence
Beatriz N. Leitao, Paula Faustino, Susana Vinga
Summary: Anaemia, caused by nutritional or genetic factors, is a prevalent condition worldwide. Proper discrimination between different types of anaemia is necessary for effective treatment and genetic counseling. This study tests existing classification methods and proposes new approaches to identify and classify microcytic anaemias. The results demonstrate the potential of using affordable blood tests and artificial intelligence in achieving accurate classification.
PROGRESS IN ARTIFICIAL INTELLIGENCE, EPIA 2022
(2022)
Article
Public, Environmental & Occupational Health
C. Samoes, I Kislaya, M. Sousa-Uva, V Gaio, P. Faustino, B. Nunes, C. Matias-Dias, M. Barreto
Summary: Anemia is a prevalent issue in the Portuguese population, with an overall prevalence of 5.8%. Previously undiagnosed cases make up 92.5% of the total cases. Socioeconomic factors such as age, education, occupation, and material deprivation are associated with anemia in both men and women.
JOURNAL OF PUBLIC HEALTH-HEIDELBERG
(2022)
Meeting Abstract
Medicine, General & Internal
Laura Aguiar, Joana Ferreira, Andreia Matos, Mario Rui Mascarenhas, Luiz Menezes Falcao, Paula Faustino, Manuel Bicho, Angela Inacio
Meeting Abstract
Medicine, General & Internal
Daniela Santos, Irina Kislaya, Pedro Lopes, Carlos Matias-Dias, Marta Barreto, Paula Faustino
Meeting Abstract
Medicine, General & Internal
Laura Aguiar, Joana Ferreira, Maria Jose Laires, Mario Rui Mascarenhas, Angela Inacio, Paula Faustino, Manuel Bicho
Meeting Abstract
Medicine, General & Internal
Barbara D. Faleiro, Raquel Maia, Sara Batalha, Joana Mendonca, Miguel P. Machado, Luis Vieira, Joao Lavinha, Paula Faustino
Meeting Abstract
Medicine, General & Internal
Barbara D. Faleiro, Joao Lavinha, Paula Faustino
Meeting Abstract
Medicine, General & Internal
Marisa Silva, Sofia Vargas, Andreia Coelho, Joao Lavinha, Paula Faustino
Meeting Abstract
Medicine, General & Internal
Rita Simao, Rita Fleming, Joana Mendonca, Miguel P. Machado, Luis Vieira, Wilson Tavares, Joao Lavinha, Paula Faustino