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Sobrecarga de ferro, tipo africano
ORPHA:139507CID-10 · E83.1CID-11 · 5C64.10OMIM 601195DOENÇA RARA

A sobrecarga de ferro africana é uma doença rara, observada em pessoas da África Subsaariana. Ela se caracteriza pelo acúmulo de ferro em excesso no corpo, devido ao consumo exagerado de ferro na alimentação e, possivelmente, a fatores genéticos. Essa condição pode levar à formação de fibrose (cicatrizes) nos canais do fígado e a um tipo grave de dano ao fígado chamado cirrose micronodular, que se manifesta com pequenos nódulos.

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Introdução

O que você precisa saber de cara

📋

A sobrecarga de ferro africana é uma doença rara, observada em pessoas da África Subsaariana. Ela se caracteriza pelo acúmulo de ferro em excesso no corpo, devido ao consumo exagerado de ferro na alimentação e, possivelmente, a fatores genéticos. Essa condição pode levar à formação de fibrose (cicatrizes) nos canais do fígado e a um tipo grave de dano ao fígado chamado cirrose micronodular, que se manifesta com pequenos nódulos.

Publicações científicas
126 artigos
Último publicado: 2026 Feb 19
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SUS: Sem cobertura SUSScore: 0%
CID-10: E83.1
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫃
Digestivo
12 sintomas
📏
Crescimento
2 sintomas
❤️
Coração
2 sintomas
🛡️
Imunológico
1 sintomas
🦴
Ossos e articulações
1 sintomas
🫘
Rins
1 sintomas

+ 8 sintomas em outras categorias

Características mais comuns

90%prev.
Aumento da concentração circulante de ferritina
Muito frequente (99-80%)
55%prev.
Necrose periportal hepática
Frequente (79-30%)
55%prev.
Saturação elevada da transferrina
Frequente (79-30%)
55%prev.
Hepatite
Frequente (79-30%)
55%prev.
Hepatite viral
Frequente (79-30%)
55%prev.
Concentração hepática de ferro elevada
Frequente (79-30%)
27sintomas
Muito frequente (1)
Frequente (6)
Ocasional (15)
Muito raro (3)
Sem dados (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 27 características clínicas mais associadas, ordenadas por frequência.

Aumento da concentração circulante de ferritinaIncreased circulating ferritin concentration
Muito frequente (99-80%)90%
Necrose periportal hepáticaHepatic periportal necrosis
Frequente (79-30%)55%
Saturação elevada da transferrinaElevated transferrin saturation
Frequente (79-30%)55%
HepatiteHepatitis
Frequente (79-30%)55%
Hepatite viralViral hepatitis
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico126PubMed
Últimos 10 anos200publicações
Pico201922 papers
Linha do tempo
2026Hoje · 2026🧪 1985Primeiro ensaio clínico📈 2019Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
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2Fase 22
·Pré-clínico3
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

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Publicações mais relevantes

Timeline de publicações
1 papers (10 anos)
#1

Genetic dissection of signalling pathways that mediate iron-related tumor growth in a Drosophila model.

PLoS genetics2026 Feb

Iron dyshomeostasis is associated with various cancers. Here we explore the underlying mechanisms through which iron promotes tumor growth and metastasis using a Drosophila cancer model. In this model, cells iin the eye-antennal imaginal disc co-express oncogenic Raf gain-of-function and Scribbled loss-of-function mutants, leading to tumor formation. First, we show that dietary iron overload enhances tumor growth, invasiveness and mobility of cancer cells, whereas iron chelation suppresses these phenotypes. Consistently, RNA interference (RNAi)-mediated knockdown of dZIP13, a zinc transporter that transports iron into the secretory pathway, results in cytosolic iron accumulation and exacerbates the cancer-like phenotypes. Second, we show that the activity of a ten-eleven translocation DNA dioxygenase (TET), which enables DNA demethylation, correlates with cellular iron bioavailability, consistent with the known requirement of iron in the catalytic site of this enzyme. Third, we show that the TET enzyme transcriptionally regulates a histone methylase responsible for the H3K27me3 epigenetic mark. Fourth, we demonstrate that the iron-dependent DNA demethylation and subsequent histone trimethylation events activate the JAK/STAT signalling pathway, which promotes tumorigenesis, including the recruitment and proliferation of hemocytes to the malignant tissue. These findings reveal a novel tumor-suppressor function for dZIP13, while providing molecular mechanisms for iron-mediated tumor progression.

#2

Nrf2 contributes to the protective effect of iron overload on thioacetamide-induced chronic liver injury in rats.

Toxicological sciences : an official journal of the Society of Toxicology2026 Feb 18

Chronic liver disease (CLD) is a global health concern that progresses to liver cirrhosis and cancer. This progression can be partly replicated in rodents through experimental administration of thioacetamide (TAA). Hepatic iron accumulation is a relatively common finding in CLD patients, as excess intracellular iron promotes the progression of CLD by generating reactive oxygen species. We previously reported that dietary iron overload abrogates TAA-induced liver cirrhosis in rats, raising a possibility that hepatic iron accumulation exerts a cytoprotective function. Here we investigated the role of Kelch-like ECH-associated protein 1-NF-E2-related factor 2 (Keap1-Nrf2) system in the protective effects of iron overload in TAA-induced chronic liver injury. The suppression of TAA-induced liver cirrhosis by dietary iron overload, demonstrated in wild-type rats, was cancelled in Nrf2 knockout (KO) rats, suggesting that Nrf2 contributes to the protective effect. In wild-type rats treated with both TAA and iron, major Nrf2-target gene products, NAD(P)H quinone dehydrogenase 1 and placental glutathione S-transferase (GSTP), were specifically overexpressed in hepatocytes around the fibrotic lesions. This overexpression was accompanied by iron accumulation and expression of cytochrome P450 2E1, which converts TAA into its toxic metabolites. In addition, wild-type rats treated with TAA alone developed multiple GSTP-positive preneoplastic foci, characterized by strong activation of Nrf2, partially involved by p62-dependent selective autophagy. GSTP expression was absent in hepatocytes of Nrf2 KO rats. These results suggest that Nrf2 protects liver cirrhosis and promotes formation of preneoplastic hepatocellular nodules during TAA-induced chronic liver injury depending on the hepatic iron condition.

#3

HUWE1 in Skeletal Muscle Prevents Muscle Fatigue via Maintaining Iron and Calcium Homeostasis.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)2026 Jan

Iron is critical to optimal athletic performance because of its role in energy metabolism, oxygen transport, and acid-base balance. However, the precise mechanism how skeletal muscle maintains iron homeostasis during exercise remains enigmatic. Here, it is demonstrated that the HECT-domain containing ubiquitin ligase E3 Huwe1 (also known as MULE or ARF-BP1) in skeletal muscle is suppressed upon exhausted exercise. Loss of Huwe1 in skeletal muscle restrains the exercise performance of Huwe1 conditional knockout (cKO) mice, accompanied with pronounced oxidative stress. Mechanistically, Huwe1 depletion stabilizes c-Myc protein, leading to upregulated sarcolipin (Sln) expression with inhibited SarcoEndoplasmic Reticulum Calcium ATPase (SERCA) activity, and downregulated ferroportin (Fpn, also known as Slc40a1) expression with iron overload. Silencing of c-Myc restores SERCA activity and iron export. Consistently, SERCA activator CDN1163, Sln silencing, or dietary iron restriction ameliorates the exercise performance of Huwe1 cKO mice. Of note, improved exercise performance is accompanied with diminished oxidative stress in Huwe1 cKO mice upon iron restriction. Taken together, the results unveil a key function for HUWE1 in skeletal muscle as a fundamental coordinator of iron and calcium homeostasis by regulating SERCA activity and iron metabolism. These findings reveal a regulatory pathway on controlling iron/calcium homeostasis and exercise capacity.

#4

Assessing causal relationships between iron level, disorders of iron metabolism, and hepatocellular carcinoma: a Mendelian randomisation study : The first author.

Discover oncology2026 Feb 03

Emerging evidence indicates that elevated systemic iron levels and dysregulated iron metabolism are closely associated with the pathogenesis of hepatocellular carcinoma (HCC). Observational studies have linked iron overload (e.g., hereditary hemochromatosis) to an increased risk of HCC, potentially mediated through iron-induced oxidative stress, DNA damage, and chronic inflammatory responses. However, the causal relationship between specific iron-related factors-such as organ-specific iron accumulation, systemic iron metabolism disorders, or exogenous iron exposure (dietary/drug iron)-and HCC development remains unconfirmed. The data of genome-wide association studies (GWAS) involving a variety of human iron content indicators were collected and summarized, covering multiple dimensions such as liver iron content, spleen iron content, pancreas iron content, dietary iron content, drug iron content, and serum iron content, and the information related to genetic diseases of iron metabolism was also included. To explore the potential causal association between iron metabolism disorders and the risk of HCC using two-sample univariate and multivariate Mendelian randomization (MR) techniques. The inverse variance weighting (IVW) method was used as the main analysis method. No significant level of pleiotropy was detected according to the MR pleiotropy residual test. Cochran's Q test and MR-Egger regression analysis did not find evidence of heterogeneity and directional pleiotropy of single nucleotide polymorphisms (SNPs). The results of univariate MR Estimation based on the IVW. method show that Liver iron content (OR = 1.0009, CI = 1.0005-1.0013, p = 9.6499e-06) and disorders of iron metabolism (OR = 1.0000, CI = 1.0000-1.0001, P = 4.0417e-08) were the causes of liver cancer. There was no evidence of a causal relationship between drug iron(OR = 1.0176, CI = 0.9612-1.0773, p = 0.5486), dietary iron(OR = 0.9843, CI = 0.9683-1.0007, p = 0.0603) and HCC. Multivariate MR Estimation results based on the IVW method showed that no significant causal association was found between liver iron content, spleen iron content, pancreas iron content, serum iron content, iron metabolism disorder, and HCC risk after using the IVW method. The univariate results may reflect the complexity of the true association, which needs to be further explored in combination with other methods.

#5

Spermidine alleviates ethanol-induced hepatocyte ferroptosis by restoring hepatic iron homeostasis via the gut-liver axis.

Phytomedicine : international journal of phytotherapy and phytopharmacology2026 Mar

Alcohol-related liver disease (ALD) remains a global public health challenge, highlighting the urgent need to uncover novel pathophysiological mechanisms and therapeutic targets. Spermidine, a natural polyamine abundant in dietary plant sources and present in all eukaryotic cells, exhibits versatile biological activities, yet its role in ALD development remains unclear. This study aimed to investigate the changes of spermidine metabolism and evaluate the hepatoprotective potential of spermidine in ALD. The effects of ethanol on hepatic spermidine homeostasis and the hepatoprotective effects of spermidine were examined in clinical sample analysis, ethanol-fed mouse models, and in vitro systems (AML12 hepatocytes and Caco-2 monolayers). In this study, we provided the first comprehensive evidence from clinical samples, animal models, and cell culture systems demonstrating that ethanol consumption significantly reduced spermidine levels. Ethanol feeding induced an increase in serum aminotransferase activities, liver steatosis, oxidative stress, iron accumulation, and hepatocyte ferroptosis, which were significantly ameliorated by exogenous spermidine supplementation and exacerbated by the spermidine synthesis inhibitor DFMO. Mechanistically, spermidine inhibited iron uptake, prevented ferritin heavy chain (FTH) degradation likely by suppressing ferritinophagy, promoted iron export in hepatocytes, and reduced intestinal iron absorption. Notably, these protective effects were abolished in both global and hepatocyte-specific Nrf2-knockout mice, indicating dependence on NRF2 signaling. These results identify ethanol-induced spermidine reduction as a previously unrecognized molecular event in the pathogenesis of ALD and highlight dietary spermidine supplementation as a promising strategy to counteract ethanol-driven iron dysregulation and hepatocyte ferroptosis.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

Genetic dissection of signalling pathways that mediate iron-related tumor growth in a Drosophila model.

PLoS genetics
2025

Moderate iron deficiency and high dietary iron intake differentially alter hepatic lipid metabolism and adipose tissue lipid handling in mice.

Frontiers in nutrition
2026

Assessing causal relationships between iron level, disorders of iron metabolism, and hepatocellular carcinoma: a Mendelian randomisation study : The first author.

Discover oncology
2026

Spermidine alleviates ethanol-induced hepatocyte ferroptosis by restoring hepatic iron homeostasis via the gut-liver axis.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2026

l-Theanine attenuates intestinal oxidative injury in mice through modulation of ferroptosis pathways.

The Journal of nutritional biochemistry
2025

Copper-Induced Cell Death in Renal Diseases: Molecular Mechanisms and Therapeutic Implications.

Drug design, development and therapy
2026

Iron Balance and Cardiovascular Health: The Double-Edged Role of Deficiency and Overload.

Cardiovascular toxicology
2026

Iron and Bile Acids Synergize to Exacerbate Congenital Cholestatic Liver Injury via Ferroptosis.

The American journal of pathology
2026

Ketogenic diet impairs NK cell cytotoxic function in colorectal cancer liver metastasis by inducing ferroptosis via suppression of the p62-Keap1-Nrf2 pathway.

Redox biology
2026

Nrf2 contributes to the protective effect of iron overload on thioacetamide-induced chronic liver injury in rats.

Toxicological sciences : an official journal of the Society of Toxicology
2026

HUWE1 in Skeletal Muscle Prevents Muscle Fatigue via Maintaining Iron and Calcium Homeostasis.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

The Role of Iron as a Micronutrient in Key Biological Functions, Health and Diseases in Human.

Nutrition bulletin
2025

First Assessment of Oral Iron Chelator HBED Increases Iron Excretion in Black Rhinoceros (Diceros bicornis minor).

Animals : an open access journal from MDPI
2025

Iron: More than Meets the Eye.

Nutrients
2025

TIM-3 ameliorates host responses to Salmonella infection by controlling iron driven CD4+ T cell differentiation and interleukin-10 formation.

EBioMedicine
2025

Iron Overload Accelerates Aging-Associated Kidney Injury in Mice: Implications for Iron Supplementation in the Elderly.

Nutrients
2025

Optimizing care for chronic kidney disease: Considerations from A to Z.

Journal of the Chinese Medical Association : JCMA
2025

[Nutritional guidelines for the improvement of patients with osteoarthritis].

Nutricion hospitalaria
2025

Current Landscape of Hepcidin Therapeutics.

Advances in experimental medicine and biology
2025

Nutritional Landscape of Iron in Cardiovascular Disease.

The Journal of nutrition
2025

Food-derived compounds targeting ferroptosis for cancer therapy: from effects to mechanisms.

Frontiers in oncology
2025

Correlation between vitamin D level and left ventricular myocardial function demonstrated by speckle tracking echocardiography among β-thalassemia major children.

European journal of pediatrics
2025

Rhinoceromics: a multi-amplicon study with clinical markers to transferrin saturation levels in ex-situ black rhinoceros (Diceros bicornis michaeli).

Frontiers in microbiology
2025

Quercetin, as a Nutritional Supplement, Protects against Iron Overload-Induced Testicular Dysfunction via Inhibiting Ferroptosis.

Journal of agricultural and food chemistry
2025

Measures of cellular oxidative damage following vitamin E supplementation in young patients with transfusion-dependent thalassemia: a double-blind randomized controlled trial.

BMC pediatrics
2025

Hyperphosphatemia in Kidney Failure: Pathophysiology, Challenges, and Critical Role of Phosphorus Management.

Nutrients
2025

Iron status and risk of iron disorders in neonates: A narrative review of recent studies in animal models.

Nutrition research reviews
2025

Differences in nonheme iron absorption between healthy adults of East Asian or Northern European ancestry from the Iron Genes in East Asian and Northern European Adults Study (FeGenes): A cross-sectional stable iron isotope study.

The American journal of clinical nutrition
2024

Ferroptosis as a potential connection between schizophrenia and metabolic dysfunction-associated steatotic liver disease - a narrative review.

Postepy psychiatrii neurologii
2024

Ferulic Acid Alleviates Lipid and Bile Acid Metabolism Disorders by Targeting FASN and CYP7A1 in Iron Overload-Treated Mice.

Antioxidants (Basel, Switzerland)
2024

High-iron diet damages brown adipose tissue mitochondria and exacerbates metabolic hazards of a high-fat diet.

Biochemical and biophysical research communications
2025

Effects of iron overload in human joint tissue explant cultures and animal models.

Journal of molecular medicine (Berlin, Germany)
2024

Bile from the hemojuvelin-deficient mouse model of iron excess is enriched in iron and ferritin.

Metallomics : integrated biometal science
2024

Spns1 is an iron transporter essential for megalin-dependent endocytosis.

American journal of physiology. Renal physiology
2024

In vivo silencing of intestinal DMT1 mitigates iron loading in β-thalassemia intermedia (Hbbth3/+) mice.

Blood advances
2024

The effect of iron supplementation in preterm infants at different gestational ages.

BMC pediatrics
2024

Hepatoprotective potential of four fruit extracts rich in different structural flavonoids against alcohol-induced liver injury via gut microbiota-liver axis.

Food chemistry
2024

The Cellular Stability Hypothesis: Evidence of Ferroptosis and Accelerated Aging-Associated Diseases as Newly Identified Nutritional Pentadecanoic Acid (C15:0) Deficiency Syndrome.

Metabolites
2024

[Diagnosis and treatment of iron deficiency anemia].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2024

Molecular Mechanism Study of Dietary Fiber Lignin Intervention in Ulcerative Colitis through GPR37.

Journal of agricultural and food chemistry
2024

The Importance and Essentiality of Natural and Synthetic Chelators in Medicine: Increased Prospects for the Effective Treatment of Iron Overload and Iron Deficiency.

International journal of molecular sciences
2024

Difference in the Mechanism of Iron Overload-Enhanced Acute Hepatotoxicity Induced by Thioacetamide and Carbon Tetrachloride in Rats.

Toxicologic pathology
2025

Dietary Iron Overload Triggers Hepatic Metabolic Disorders and Inflammation in Laying Hen.

Biological trace element research
2024

Construction of phenolic acids grafted chitosan bioactive microspheres to reduce oxidation and iron absorption in meat digestion.

International journal of biological macromolecules
2024

Iron homeostasis in older adults: balancing nutritional requirements and health risks.

The journal of nutrition, health & aging
2024

High Dietary Intake of Iron Might Be Harmful to Atrial Fibrillation and Modified by Genetic Diversity: A Prospective Cohort Study.

Nutrients
2024

Excessive dietary iron exposure increases the susceptibility of largemouth bass (Micropterus salmoides) to Aeromonas hydrophila by interfering with immune response, oxidative stress, and intestinal homeostasis.

Fish & shellfish immunology
2023

Drug Selection and Posology, Optimal Therapies and Risk/Benefit Assessment in Medicine: The Paradigm of Iron-Chelating Drugs.

International journal of molecular sciences
2024

Iron chelation and supplementation: A comparison in the management of inflammatory bowel disease using drosophila.

Life sciences
2023

One advantageous reflection of iron metabolism in context of normal physiology and pathological phases.

Clinical nutrition ESPEN
2023

Factors affecting iron absorption and the role of fortification in enhancing iron levels.

Nutrition bulletin
2023

Excess iron intake induced liver injury: The role of gut-liver axis and therapeutic potential.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
2023

Iron blocks autophagic flux and induces autophagosomes accumulation in microglia.

Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association
2023

Iron Load Toxicity in Medicine: From Molecular and Cellular Aspects to Clinical Implications.

International journal of molecular sciences
2023

The iron chaperone poly(rC)-binding protein 1 regulates iron efflux through intestinal ferroportin in mice.

Blood
2023

Iron in multiple sclerosis - Neuropathology, immunology, and real-world considerations.

Multiple sclerosis and related disorders
2023

Progress in pharmacotherapy for the treatment of hyperphosphatemia in renal failure.

Expert opinion on pharmacotherapy
2023

[Diagnosis and treatment of iron overload].

La Revue de medecine interne
2023

Nutritional Aspects of Iron in Health and Disease.

Nutrients
2023

Iron metabolism in colorectal cancer: a balancing act.

Cellular oncology (Dordrecht, Netherlands)
2023

Food Consumption of People with Sickle Cell Anemia in a Middle-Income Country.

Nutrients
2023

Interaction Between Dietary Iron Intake and Genetically Determined Iron Overload: Risk of Islet Autoimmunity and Progression to Type 1 Diabetes in the TEDDY Study.

Diabetes care
2023

Oral Non-absorbable Polymer-Deferoxamine Conjugates for Reducing Dietary Iron Absorption.

Molecular pharmaceutics
2022

Dietary iron overload enhances Western diet induced hepatic inflammation and alters lipid metabolism in rats sharing similarity with human DIOS.

Scientific reports
2022

Reticulocyte hemoglobin content changes after treatment of anemia of prematurity.

Pediatrics international : official journal of the Japan Pediatric Society
2023

Dietary iron restriction protects against vaso-occlusion and organ damage in murine sickle cell disease.

Blood
2022

Tetrahydrocurcumin-Related Vascular Protection: An Overview of the Findings from Animal Disease Models.

Molecules (Basel, Switzerland)
2022

Acetyl-CoA Deficiency Is Involved in the Regulation of Iron Overload on Lipid Metabolism in Apolipoprotein E Knockout Mice.

Molecules (Basel, Switzerland)
2022

Safety and efficacy of a novel iron chelator (HBED; (N,N'-Di(2-hydroxybenzyl)ethylenediamine-N,N'-diacetic acid)) in equine (Equus caballus) as a model for black rhinoceros (Diceros bicornis).

Journal of animal physiology and animal nutrition
2022

Reduction in Ferritin Concentrations among Patients Consuming a Dark-Green Leafy Vegetable-Rich, Low Inflammatory Foods Everyday (LIFE) Diet.

Current developments in nutrition
2022

Pitfalls of iron supplementation in parenteral nutrition admixtures for children with intestinal failure.

JPEN. Journal of parenteral and enteral nutrition
2022

Synergistic Antifungal Effect of a Combination of Iron Deficiency and Calcium Supplementation.

Microbiology spectrum
2022

Supplementation with High or Low Iron Reduces Colitis Severity in an AOM/DSS Mouse Model.

Nutrients
2022

Role of Iron in Aging Related Diseases.

Antioxidants (Basel, Switzerland)
2022

Iron overload and impaired iron handling contribute to the dystrophic pathology in models of Duchenne muscular dystrophy.

Journal of cachexia, sarcopenia and muscle
2022

Activation of STAT and SMAD Signaling Induces Hepcidin Re-Expression as a Therapeutic Target for β-Thalassemia Patients.

Biomedicines
2021

Hfe Gene Knock-Out in a Mouse Model of Hereditary Hemochromatosis Affects Bodily Iron Isotope Compositions.

Frontiers in medicine
2022

Iron parameters in pregnant women with beta-thalassaemia minor combined with iron deficiency anaemia compared to pregnant women with iron deficiency anaemia alone demonstrate the safety of iron supplementation in beta-thalassaemia minor during pregnancy.

British journal of haematology
2021

Tissue-Specific Regulation of Ferroportin in Wild-Type and Hjv-/- Mice Following Dietary Iron Manipulations.

Hepatology communications
2021

Isolated optic neuropathy due to folate deficiency with associated iron overload.

BMJ case reports
2021

Dietary iron overload mitigates atherosclerosis in high-fat diet-fed apolipoprotein E knockout mice: Role of dysregulated hepatic fatty acid metabolism.

Biochimica et biophysica acta. Molecular and cell biology of lipids
2022

Factors associated with serum ferritin levels and iron excess: results from the EPIC-EurGast study.

European journal of nutrition
2021

Hepcidin-Ferroportin Interaction Controls Systemic Iron Homeostasis.

International journal of molecular sciences
2021

High Dietary Iron Has a Greater Impact on Brain Iron Homeostasis and Cognitive Function in Old Compared with Young C57BL/6J Male Mice.

The Journal of nutrition
2021

Higher Hepcidin Levels in Adolescents with Obesity Are Associated with Metabolic Syndrome Dyslipidemia and Visceral Fat.

Antioxidants (Basel, Switzerland)
2022

Serum ceruloplasmin monitoring in a case of silver intoxication due to intravenous silver infusion.

Clinical toxicology (Philadelphia, Pa.)
2021

Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance.

Orphanet journal of rare diseases
2021

Revisiting hemochromatosis: genetic vs. phenotypic manifestations.

Annals of translational medicine
2021

Lipocalin 2 regulates iron homeostasis, neuroinflammation, and insulin resistance in the brains of patients with dementia: Evidence from the current literature.

CNS neuroscience & therapeutics
2021

SARS-CoV-2 infection in patients with β-thalassemia: Experience from Lebanon.

American journal of hematology
2021

Long-Term Iron Deficiency and Dietary Iron Excess Exacerbate Acute Dextran Sodium Sulphate-Induced Colitis and Are Associated with Significant Dysbiosis.

International journal of molecular sciences
2021

The effect of food and nutrients on iron overload: what do we know so far?

European journal of clinical nutrition
2021

Oxidative status in the β-thalassemia syndromes in Sri Lanka; a cross-sectional survey.

Free radical biology & medicine
2021

Hemochromatosis, alcoholism and unhealthy dietary fat: a case report.

Journal of medical case reports
2021

Feed intake and dietary composition of iron (Fe), copper (Cu), vitamin E, and tannic acid of five captive black rhinoceros (Diceros bicornis) in a UK collection.

Zoo biology
2021

Cell-specific expression of Hfe determines the outcome of Salmonella enterica serovar Typhimurium infection in mice.

Haematologica
2020

Dietary Iron Overload Differentially Modulates Chemically-Induced Liver Injury in Rats.

Nutrients
2020

Age-Related Changes and Sex-Related Differences in Brain Iron Metabolism.

Nutrients
2020

Iron homeostasis disorder in piglet intestine.

Metallomics : integrated biometal science
2020

Dysregulated hepcidin response to dietary iron in male mice with reduced Gnpat expression.

Bioscience reports
2020

Iron and Chelation in Biochemistry and Medicine: New Approaches to Controlling Iron Metabolism and Treating Related Diseases.

Cells
2020

Vitamin D supplementation for sickle cell disease.

The Cochrane database of systematic reviews
2020

A biomathematical model of human erythropoiesis and iron metabolism.

Scientific reports
2021

Iron Chaperone Poly rC Binding Protein 1 Protects Mouse Liver From Lipid Peroxidation and Steatosis.

Hepatology (Baltimore, Md.)
2020

From Environment to Genome and Back: A Lesson from HFE Mutations.

International journal of molecular sciences
2020

Management of Iron Overload in Resource Poor Nations: A Systematic Review of Phlebotomy and Natural Chelators.

Journal of toxicology
2020

Loss of Cardiac Ferritin H Facilitates Cardiomyopathy via Slc7a11-Mediated Ferroptosis.

Circulation research
2020

Trace Elements, PPARs, and Metabolic Syndrome.

International journal of molecular sciences
2020

Gnpat does not play an essential role in systemic iron homeostasis in murine model.

Journal of cellular and molecular medicine
2020

Modulation of sulfur assimilation metabolic toxicity overcomes anemia and hemochromatosis in mice.

Advances in biological regulation
2020

Anemia management in non-menopausal women in a primary care setting: a prospective evaluation of clinical practice.

BMC family practice
2020

Can ferric citrate lead to iron overload in peritoneal dialysis patients?
.

Clinical nephrology
2019

Effect of Curcumin on Iron Toxicity and Bacterial Infection in Catfish (Clarias gariepinus).

Pakistan journal of biological sciences : PJBS
2019

Recovery Of Bone And Muscle Mass In Patients With Chronic Kidney Disease And Iron Overload On Hemodialysis And Taking Combined Supplementation With Curcumin And Resveratrol.

Clinical interventions in aging
2019

[Body iron accumulation in obesity, diabetes and its complications, and the possibility of therapeutic application by iron regulation].

Nihon yakurigaku zasshi. Folia pharmacologica Japonica
2020

Epidemiology of Liver Cancer in Africa: Current and Future Trends.

Seminars in liver disease
2020

Impact of natural neuromedin-B receptor variants on iron metabolism.

American journal of hematology
2019

Examining the link between dose-dependent dietary iron intake and Alzheimer's disease through oxidative stress in the rat cortex.

Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)
2019

[The role of iron overload in the progression of nonalcoholic steatohepatitis (NASH)].

Nihon yakurigaku zasshi. Folia pharmacologica Japonica
2019

Role of Dietary Flavonoids in Iron Homeostasis.

Pharmaceuticals (Basel, Switzerland)
2019

High Dietary Iron Disrupts Iron Homeostasis and Induces Amyloid-β and Phospho-τ Expression in the Hippocampus of Adult Wild-Type and APP/PS1 Transgenic Mice.

The Journal of nutrition
2019

Excess Iron Enhances Purine Catabolism Through Activation of Xanthine Oxidase and Impairs Myelination in the Hippocampus of Nursing Piglets.

The Journal of nutrition
2020

Effect of a Prolonged Dietary Iron Intake on the Gene Expression and Activity of the Testicular Antioxidant Defense System in Rats.

Biological trace element research
2019

Iron Deposition Leads to Hyperphosphorylation of Tau and Disruption of Insulin Signaling.

Frontiers in neurology
2019

Effect of routine iron-folic acid supplementation among rural pregnant women living in low- and high-groundwater-iron areas in Bangladesh.

Public health nutrition
2019

Iron and Atherosclerosis: The Link Revisited.

Trends in molecular medicine
2019

The Role of Iron in the Susceptibility of Neonatal Mice to Escherichia coli K1 Sepsis.

The Journal of infectious diseases
2019

Dietary iron restriction leads to a reduction in hepatic fibrosis in a rat model of non-alcoholic steatohepatitis.

Biology open
2019

John's story - living with hereditary haemochromatosis.

Rural and remote health
2019

Influence of mitochondrial and systemic iron levels in heart failure pathology.

Heart failure reviews
2020

Atherosclerosis is aggravated by iron overload and ameliorated by dietary and pharmacological iron restriction.

European heart journal
2019

Iron alters macrophage polarization status and leads to steatohepatitis and fibrogenesis.

Journal of leukocyte biology
2019

Iron Exposure and the Cellular Mechanisms Linked to Neuron Degeneration in Adult Mice.

Cells
2020

Effect of procyanidin on dietary iron absorption in hereditary hemochromatosis and in dysmetabolic iron overload syndrome: A crossover double-blind randomized controlled trial.

Clinical nutrition (Edinburgh, Scotland)
2019

Dietary restriction of iron availability attenuates UPEC pathogenesis in a mouse model of urinary tract infection.

American journal of physiology. Renal physiology
2019

Myocardial iron homeostasis and hepcidin expression in a rat model of heart failure at different levels of dietary iron intake.

Biochimica et biophysica acta. General subjects
2018

Iron-enriched diet contributes to early onset of osteoporotic phenotype in a mouse model of hereditary hemochromatosis.

PloS one
2018

Inherited Disorders of Iron Overload.

Frontiers in nutrition
2019

Gastrointestinal iron excretion and reversal of iron excess in a mouse model of inherited iron excess.

Haematologica
2019

Liver iron sensing and body iron homeostasis.

Blood
2018

Dietary Iron Overload Abrogates Chemically-Induced Liver Cirrhosis in Rats.

Nutrients
2018

Dual action of vitamin C in iron supplement therapeutics for iron deficiency anemia: prevention of liver damage induced by iron overload.

Food & function
2019

Chronic iron overload causing haemochromatosis and hepatopathy in 21 horses and one donkey.

Equine veterinary journal
2018

Myeloperoxidase deficiency attenuates systemic and dietary iron-induced adverse effects.

The Journal of nutritional biochemistry
2018

Scurvy due to restrictive diet in a child with autism spectrum disorder: case report.

Archivos argentinos de pediatria
2018

Severe Iron Metabolism Defects in Mice With Double Knockout of the Multicopper Ferroxidases Hephaestin and Ceruloplasmin.

Cellular and molecular gastroenterology and hepatology
2018

Molecular mechanisms related to the hepatoprotective effects of antioxidant-rich extra virgin olive oil supplementation in rats subjected to short-term iron administration.

Free radical biology & medicine
2018

Dietary Green Tea Extract Prior to Spinal Cord Injury Prevents Hepatic Iron Overload but Does Not Improve Chronic Hepatic and Spinal Cord Pathology in Rats.

Journal of neurotrauma
2018

Iron Overload Exacerbates the Risk of Hemorrhagic Transformation After tPA (Tissue-Type Plasminogen Activator) Administration in Thromboembolic Stroke Mice.

Stroke
2018

Iron supplementation in pregnant sicklers: an opinion.

BMC pregnancy and childbirth
2018

Prenatal iron exposure and childhood type 1 diabetes.

Scientific reports
2018

Iron and a Man's Reproductive Health: the Good, the Bad, and the Ugly.

Current urology reports
2018

Dietary supplementation of Spirulina ameliorates iron-induced oxidative stress in Indian knife fish Notopterus Notopterus.

Environmental toxicology and pharmacology
2018

An investigation of the effects of curcumin on iron overload, hepcidin level, and liver function in β-thalassemia major patients: A double-blind randomized controlled clinical trial.

Phytotherapy research : PTR
2018

Hemochromatosis: Evaluation of the dietary iron model and regulation of hepcidin.

Biochimica et biophysica acta. Molecular basis of disease
2018

Serum Hepcidin Concentration in Individuals with Sickle Cell Anemia: Basis for the Dietary Recommendation of Iron.

Nutrients
2018

Adenine alleviates iron overload by cAMP/PKA mediated hepatic hepcidin in mice.

Journal of cellular physiology
2018

Identification of Genes for Hereditary Hemochromatosis.

Methods in molecular biology (Clifton, N.J.)
2018

Dietary Iron Supplementation Alters Hepatic Inflammation in a Rat Model of Nonalcoholic Steatohepatitis.

Nutrients
2018

Associations between Zinc Deficiency and Metabolic Abnormalities in Patients with Chronic Liver Disease.

Nutrients
2017

Dietary nonheme iron is equally bioavailable from ferritin or ferrous sulfate in thalassemia intermedia.

Pediatric hematology and oncology
2017

Excess iron intake as a factor in growth, infections, and development of infants and young children.

The American journal of clinical nutrition
2017

Dietary iron loading negatively affects liver mitochondrial function.

Metallomics : integrated biometal science
2017

Iron supplementation in mouse expands cellular innate defences in spleen and defers lethal malaria infection.

Biochimica et biophysica acta. Molecular basis of disease
2017

Dietary intake of heme iron and body iron status are associated with the risk of gestational diabetes mellitus: a systematic review and meta-analysis.

Asia Pacific journal of clinical nutrition
2017

Dietary iron restriction alleviates renal tubulointerstitial injury induced by protein overload in mice.

Scientific reports
2017

Management of iron overload in hemoglobinopathies.

Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine
2017

Genetic and Dietary Iron Overload Differentially Affect the Course of Salmonella Typhimurium Infection.

Frontiers in cellular and infection microbiology
2017

Nonabsorbable Iron Binding Polymers Prevent Dietary Iron Absorption for the Treatment of Iron Overload.

ACS macro letters
2017

Dietary supplementation of grape seed and skin flour mitigates brain oxidative damage induced by a high-fat diet in rat: Gender dependency.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
2017

Inositol hexa phosphoric acid (phytic acid), a nutraceuticals, attenuates iron-induced oxidative stress and alleviates liver injury in iron overloaded mice.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
2017

Modelling Systemic Iron Regulation during Dietary Iron Overload and Acute Inflammation: Role of Hepcidin-Independent Mechanisms.

PLoS computational biology
2017

High levels of iron supplementation prevents neural tube defects in the Fpn1ffe mouse model.

Birth defects research
2017

Genetic disruption of NRF2 promotes the development of necroinflammation and liver fibrosis in a mouse model of HFE-hereditary hemochromatosis.

Redox biology
2017

Modern American scurvy - experience with vitamin C deficiency at a large children's hospital.

Pediatric radiology
2016

Dietary supplementation with ipriflavone decreases hepatic iron stores in wild type mice.

Blood cells, molecules & diseases
2016

Pharmacological Targeting of the Hepcidin/Ferroportin Axis.

Frontiers in pharmacology
2016

IHD from copper deficiency: a unified theory.

Nutrition research reviews
2016

MicroRNA-21 is associated with fibrosis in a rat model of nonalcoholic steatohepatitis and serves as a plasma biomarker for fibrotic liver disease.

Toxicology letters
2016

Plasma ferritin concentrations are not associated with abdominal aortic aneurysm diagnosis, size or growth.

Atherosclerosis
2016

Iron Regulation of Pancreatic Beta-Cell Functions and Oxidative Stress.

Annual review of nutrition
2016

Iron homeostasis: transport, metabolism, and regulation.

Current opinion in clinical nutrition and metabolic care
2016

Nutritional status survey of aplastic anemia patients--a single center experience in China.

Applied nursing research : ANR
2016

Hepcidin: A Promising Therapeutic Target for Iron Disorders: A Systematic Review.

Medicine
2016

Icariin regulates systemic iron metabolism by increasing hepatic hepcidin expression through Stat3 and Smad1/5/8 signaling.

International journal of molecular medicine
2016

New developments and controversies in iron metabolism and iron chelation therapy.

World journal of methodology
2016

Increased iron levels and lipid peroxidation in a Mediterranean population of Spain.

European journal of clinical investigation
2015

[IRON OVERLOAD: BETTER UNDERSTANDING, BETTER CARE].

La Revue du praticien
2016

The role of nerve inflammation and exogenous iron load in experimental peripheral diabetic neuropathy (PDN).

Metabolism: clinical and experimental
2016

Long-term risk of type 2 diabetes in relation to habitual iron intake in women with a history of gestational diabetes: a prospective cohort study.

The American journal of clinical nutrition
2016

Iron overload results in hepatic oxidative stress, immune cell activation, and hepatocellular ballooning injury, leading to nonalcoholic steatohepatitis in genetically obese mice.

American journal of physiology. Gastrointestinal and liver physiology
2015

Guidelines on the diagnosis and treatment of iron deficiency across indications: a systematic review.

The American journal of clinical nutrition
2015

The HFE genotype and a formulated diet controlling for iron status attenuate experimental cerebral malaria in mice.

International journal for parasitology
2015

Erythroferrone contributes to hepcidin suppression and iron overload in a mouse model of β-thalassemia.

Blood
2015

CD1 Mouse Retina Is Shielded From Iron Overload Caused by a High Iron Diet.

Investigative ophthalmology & visual science
2015

Is early-life iron exposure critical in neurodegeneration?

Nature reviews. Neurology
2016

Effects of Iron Supplementation With and Without Docosahexaenoic Acid on the Cardiovascular Disease Risk Based on Paraoxonase-1, hs-CRP, and ApoB/ApoA-I Ratio in Women with Iron Deficiency Anemia.

Biological trace element research
2016

Resveratrol mediates therapeutic hepatic effects in acquired and genetic murine models of iron-overload.

Liver international : official journal of the International Association for the Study of the Liver
2015

Analysis of Familial Tendencies in Transferrin Saturation in a Korean Population.

Digestive diseases and sciences

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Genetic dissection of signalling pathways that mediate iron-related tumor growth in a Drosophila model.
    PLoS genetics· 2026· PMID 41686790mais citado
  2. Nrf2 contributes to the protective effect of iron overload on thioacetamide-induced chronic liver injury in rats.
    Toxicological sciences : an official journal of the Society of Toxicology· 2026· PMID 41344862mais citado
  3. HUWE1 in Skeletal Muscle Prevents Muscle Fatigue via Maintaining Iron and Calcium Homeostasis.
    Advanced science (Weinheim, Baden-Wurttemberg, Germany)· 2026· PMID 41261985mais citado
  4. Assessing causal relationships between iron level, disorders of iron metabolism, and hepatocellular carcinoma: a Mendelian randomisation study : The first author.
    Discover oncology· 2026· PMID 41632391mais citado
  5. Spermidine alleviates ethanol-induced hepatocyte ferroptosis by restoring hepatic iron homeostasis via the gut-liver axis.
    Phytomedicine : international journal of phytotherapy and phytopharmacology· 2026· PMID 41579592mais citado
  6. Dietary iron overload exacerbates intestinal damage induced by Eimeria tenella infection in broilers via impaired barrier integrity and gut microbiota dysbiosis.
    Poult Sci· 2026· PMID 41785647recente
  7. Comparison between dietary, parenteral, and genetic iron overload on bone health reveals secondary iron overload as a driver of cortical bone loss and fracture risk in mice.
    JBMR Plus· 2025· PMID 40933230recente
  8. Difference in the Mechanism of Iron Overload-Enhanced Acute Hepatotoxicity Induced by Thioacetamide and Carbon Tetrachloride in Rats.
    Toxicol Pathol· 2024· PMID 38528719recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:139507(Orphanet)
  2. OMIM OMIM:601195(OMIM)
  3. MONDO:0011012(MONDO)
  4. GARD:8495(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q4690019(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Sobrecarga de ferro, tipo africano
Compêndio · Raras BR

Sobrecarga de ferro, tipo africano

ORPHA:139507 · MONDO:0011012
CID-10
E83.1 · Doença do metabolismo do ferro
CID-11
Início
Adult, Elderly
MedGen
UMLS
C0268063
Repurposing
3 candidatos
deferasiroxchelating agent
deferiprone
deferoxamine-mesylate
Wikidata
Papers 10a
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