A hemocromatose tipo 2 (juvenil) é a forma de início precoce e mais grave de um grupo de doenças raras e genéticas conhecido como hemocromatose hereditária (HH). Essas doenças são caracterizadas pelo acúmulo excessivo de ferro nos tecidos do corpo devido a causas genéticas.
Introdução
O que você precisa saber de cara
A hemocromatose tipo 2 (juvenil) é a forma de início precoce e mais grave de um grupo de doenças raras e genéticas conhecido como hemocromatose hereditária (HH). Essas doenças são caracterizadas pelo acúmulo excessivo de ferro nos tecidos do corpo devido a causas genéticas.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 9 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 31 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Acts as a bone morphogenetic protein (BMP) coreceptor (PubMed:18976966). Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis (PubMed:18976966)
Cell membrane
Hemochromatosis 2A
A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy.
Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues. Acts by promoting endocytosis and degradation of ferroportin/SLC40A1, leading to the retention of iron in iron-exporting cells and decreased flow of iron into plasma (PubMed:22682227, PubMed:29237594, PubMed:32814342). Controls the major flows of iron into plasma: absorption of dietary iron in the intestine, recycling of iron by macrophages, which phagocytose old erythrocyte
Secreted
Hemochromatosis 2B
A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy.
Variantes genéticas (ClinVar)
254 variantes patogênicas registradas no ClinVar.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Hemocromatose relacionada com HJV ou HAMP
Centros de Referência SUS
21 centros habilitados pelo SUS para Hemocromatose relacionada com HJV ou HAMP
Centros para Hemocromatose relacionada com HJV ou HAMP
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
Atenção Especializada
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Scientific reportsSpontaneous liver disease in wild-type C57BL/6JOlaHsd mice fed semisynthetic diet.
PloS onePrimary haemochromatosis resulting in dilated cardiomyopathy arising out of mutation in HJV gene in Indian patients: a rare scenario.
BMJ case reportsThe Proteomics Study of Compounded HFE/TF/TfR2/HJV Genetic Variations in a Thai Family with Iron Overload, Chronic Anemia, and Motor Neuron Disorder.
Journal of molecular neuroscience : MNJuvenile Hemochromatosis: A Case Report and Review of the Literature.
Pharmaceuticals (Basel, Switzerland)HFE inhibits type I IFNs signaling by targeting the SQSTM1-mediated MAVS autophagic degradation.
Autophagy[Progress on epigenetic regulation of iron homeostasis].
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciencesBone morphogenic proteins in iron homeostasis.
BoneRepulsive guidance molecules lock growth differentiation factor 5 in an inhibitory complex.
Proceedings of the National Academy of Sciences of the United States of America[Iron metabolism and iron-refractory iron deficiency anemia].
[Rinsho ketsueki] The Japanese journal of clinical hematologyEvaluation of the level of selected iron-related proteins/receptors in the liver of rats during separate/combined vanadium and magnesium administration.
Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)The Action of JAK/STAT3 and BMP/HJV/SMAD Signaling Pathways on Hepcidin Suppression by Tucum-do-Cerrado in a Normal and Iron-Enriched Diets.
NutrientsThe ectodomain of matriptase-2 plays an important nonproteolytic role in suppressing hepcidin expression in mice.
BloodNovel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism.
The American journal of case reportsImmunosuppressant-Induced Oxidative Stress and Iron: A Paradigm Shift from Systemic to Intrahepatic Abnormalities.
Oxidative medicine and cellular longevityHemochromatosis in India: First Report of Whole Exome Sequencing With Review of the Literature.
Journal of clinical and experimental hepatologyClinicopathological diagnosis and treatment of juvenile hemochromatosis.
Chinese medical journalLoneliness and Life Satisfaction Explained by Public-Space Use and Mobility Patterns.
International journal of environmental research and public healthMutations and polymorphisms associated with iron overload in a series of 91 non-HFE haemochromatosis patients.
Clinics and research in hepatology and gastroenterologyParents' Perceptions of Infant Crying: A Possible Path to Preventing Abusive Head Trauma.
Academic pediatricsDiscovery and Development of TMPRSS6 Inhibitors Modulating Hepcidin Levels in Human Hepatocytes.
Cell chemical biologyImpact of Melatonin and Branched-Chain Amino Acids Cosupplementation on Quality of Life, Fatigue, and Nutritional Status in Cachectic Heart Failure Patients: A Randomized Controlled Trial.
American journal of lifestyle medicineIdentification of heterozygous p.Y150C and p.V274M mutations in the HJV gene in a Japanese patient with a mild phenotype of juvenile hemochromatosis: A case report.
Hepatology research : the official journal of the Japan Society of HepatologyMouse models of hereditary hemochromatosis do not develop early liver fibrosis in response to a high fat diet.
PloS oneThe functional role of hemojuvelin in acute ischemic stroke.
Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and MetabolismGenotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.
Orphanet journal of rare diseasesProphylactic Haloperidol Effects on Long-term Quality of Life in Critically Ill Patients at High Risk for Delirium: Results of the REDUCE Study.
Anesthesiology[Analysis of HFE and Non-HFE Mutations in a Tibet Cohort with Iron Overload].
Zhongguo shi yan xue ye xue za zhiRecent progress on inhibitors of the type II transmembrane serine proteases, hepsin, matriptase and matriptase-2.
Future medicinal chemistryHigh-Frame-Rate Echo-Particle Image Velocimetry Can Measure the High-Velocity Diastolic Flow Patterns.
Circulation. Cardiovascular imagingTransfusion of pathogen-reduced platelet components without leukoreduction.
TransfusionHemojuvelin is a novel suppressor for Duchenne muscular dystrophy and age-related muscle wasting.
Journal of cachexia, sarcopenia and muscleHepcidin and the BMP-SMAD pathway: An unexpected liaison.
Vitamins and hormonesVariation in the repulsive guidance molecule family in human populations.
Physiological reportsEffect of atorvastatin on iron metabolism regulation in patients with chronic kidney disease - a randomized double blind crossover study.
Renal failureJuvenile hemochromatosis with multi-organ involvement diagnosed at autopsy.
Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de CitologiaA novel SLC40A1 p.Y333H mutation with gain of function of ferroportin: A recurrent cause of haemochromatosis in China.
Liver international : official journal of the International Association for the Study of the LiverInherited Disorders of Iron Overload.
Frontiers in nutritionVariable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis?
Blood cells, molecules & diseasesVariable workup calls for guideline development for type 2A hereditary haemochromatosis.
The Netherlands journal of medicineHepcidin-mediated hypoferremic response to acute inflammation requires a threshold of Bmp6/Hjv/Smad signaling.
BloodAdult onset hereditary hemochromatosis is associated with a novel recurrent Hemojuvelin (HJV) gene mutation in north Indians.
Blood cells, molecules & diseasesMC-LR induces dysregulation of iron homeostasis by inhibiting hepcidin expression: A preliminary study.
ChemosphereNon-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.
Journal of medical geneticsAn Ex Vivo Fermentation Screening Platform to Study Drug Metabolism by Human Gut Microbiota.
Drug metabolism and disposition: the biological fate of chemicalsMitochondrial uncoupling prodrug improves tissue sparing, cognitive outcome, and mitochondrial bioenergetics after traumatic brain injury in male mice.
Journal of neuroscience researchPhrenic neuropathy and diaphragm dysfunction in neuralgic amyotrophy.
NeurologyHigh-Frame-Rate Contrast-enhanced US Particle Image Velocimetry in the Abdominal Aorta: First Human Results.
RadiologyContribution of the precursors and interplay of the pathways in the phospholipid metabolism of the malaria parasite.
Journal of lipid researchAn In Vivo Study on Intoxicating Effects of Nerium oleander Water Based Extract on Multiorgans of Wistar Rat.
Canadian journal of gastroenterology & hepatologyDifferential metabolic effects of oral butyrate treatment in lean versus metabolic syndrome subjects.
Clinical and translational gastroenterologyA severe hemojuvelin mutation leading to late onset of HFE2-hemochromatosis.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverNeuroimaging Findings of Organic Acidemias and Aminoacidopathies.
Radiographics : a review publication of the Radiological Society of North America, IncPhenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease.
BloodUrinary biomarkers predict advanced acute kidney injury after cardiovascular surgery.
Critical care (London, England)Matriptase-2 deficiency protects from obesity by modulating iron homeostasis.
Nature communicationsComputer simulation of syringomyelia in dogs.
BMC veterinary researchTranscriptome analysis reveals TMPRSS6 isoforms with distinct functionalities.
Journal of cellular and molecular medicineIdentification of Genes for Hereditary Hemochromatosis.
Methods in molecular biology (Clifton, N.J.)Hemojuvelin Predicts Acute Kidney Injury and Poor Outcomes Following Cardiac Surgery.
Scientific reportsReversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: a case report.
Journal of medical case reportsA quantitative multimodal metabolomic assay for colorectal cancer.
BMC cancerPharmacodynamics and Pharmacokinetics of Lidocaine in a Rodent Model of Diabetic Neuropathy.
AnesthesiologyCauses of iron overload in blood donors - a clinical study.
Vox sanguinisAdvanced iron-overload cardiomyopathy in a genetic murine model is rescued by resveratrol therapy.
Bioscience reportsMicrovascular Permeability after an Acute and Chronic Salt Load in Healthy Subjects: A Randomized Open-label Crossover Intervention Study.
AnesthesiologyThe mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis.
International journal of hematologyHDAC1 Governs Iron Homeostasis Independent of Histone Deacetylation in Iron-Overload Murine Models.
Antioxidants & redox signalingFerroportin disease: pathogenesis, diagnosis and treatment.
HaematologicaEffect of erythropoietin administration on proteins participating in iron homeostasis in Tmprss6-mutated mask mice.
PloS oneDeletion of BMP6 worsens the phenotype of HJV-deficient mice and attenuates hepcidin levels reached after LPS challenge.
BloodPrediction of work resumption and sustainability up to 1 year after mild traumatic brain injury.
Neurology[Progress in iron metabolism research].
[Rinsho ketsueki] The Japanese journal of clinical hematology"Haemochromatotic" characteristics of the human BEL-7402 cell line.
British journal of haematologySerpinb3 is overexpressed in the liver in presence of iron overload.
Journal of investigative medicine : the official publication of the American Federation for Clinical ResearchMatriptase-2 suppresses hepcidin expression by cleaving multiple components of the hepcidin induction pathway.
The Journal of biological chemistryA single-nucleotide polymorphism in transferrin is associated with soluble transferrin receptor in Chinese adolescents.
Asia Pacific journal of clinical nutritionAngiogenic Markers Predict Pregnancy Complications and Prolongation in Preeclampsia: Continuous Versus Cutoff Values.
Hypertension (Dallas, Tex. : 1979)Deciphering the molecular basis of ferroportin resistance to hepcidin: Structure/function analysis of rare SLC40A1 missense mutations found in suspected hemochromatosis type 4 patients.
Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguineHemojuvelin regulates the innate immune response to peritoneal bacterial infection in mice.
Cell discoveryA new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2.
BloodSynergistic inhibitory effects of deferasirox in combination with decitabine on leukemia cell lines SKM-1, THP-1, and K-562.
OncotargetAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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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.
- Back to basics: Bile acids in fat absorption.
- Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study.
- Linear Growth in Children With Cystic Fibrosis in the Netherlands Born Between 1997-2004; Results of a Multicenter Cohort Analysis.
- TFR2 p.A75V mutation aggravates liver iron overload in alcoholic liver disease via ERK pathway.
- Maternal Adiposity and DNA Methylation of TfR2 and HJV Genes in Early Pregnancy: Mediating Role of Inflammation and Consequences for Iron Status.
- Global sequencing approach for characterizing the molecular background of hereditary iron disorders.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79230(Orphanet)
- MONDO:0019257(MONDO)
- Sobrecarga de Ferro — Hemocromatose Hereditaria(PCDT · Ministério da Saúde)
- GARD:10092(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q6318953(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
