Excesso de glóbulos vermelhos no sangue, causado por um aumento na produção dessas células ou por uma diminuição do volume da parte líquida do sangue (o plasma).
Introdução
O que você precisa saber de cara
A eritrocitose familiar é uma condição hereditária caracterizada por um número aumentado de glóbulos vermelhos (eritrócitos). A função principal dessas células é transportar oxigênio dos pulmões para os tecidos e órgãos de todo o corpo. Sinais e sintomas da eritrocitose familiar podem incluir dores de cabeça, tontura, sangramentos nasais e falta de ar. O excesso de glóbulos vermelhos também aumenta o risco de desenvolver coágulos sanguíneos anormais que podem bloquear o fluxo de sangue nas artérias e veias. Se esses coágulos restringirem o fluxo sanguíneo para órgãos e tecidos essenciais (particularmente o coração, os pulmões ou o cérebro), eles podem causar complicações potencialmente mortais, como ataque cardíaco ou derrame. No entanto, muitas pessoas com eritrocitose familiar apresentam apenas sinais e sintomas leves ou nunca têm problemas relacionados ao excesso de glóbulos vermelhos.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoExcesso de glóbulos vermelhos no sangue, causado por um aumento na produção dessas células ou por uma diminuição do volume da parte líquida do sangue (o plasma).
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 44 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 86 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
11 genes identificados com associação a esta condição.
Microvascular complications of diabetes 2
Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis.
Erythrocytosis, familial, 8
An autosomal recessive disorder characterized by elevated serum hemoglobin and hematocrit, and biphosphoglycerate mutase deficiency. ECYT8 affected individuals manifest hemolytic anemia and splenomegaly.
Heinz body anemias
Form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency.
Pheochromocytoma
A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent.
Heinz body anemias
Form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency.
Erythrocytosis, familial, 1
An autosomal dominant disorder characterized by elevated hemoglobin and hematocrit, hypersensitivity of erythroid progenitors to erythropoietin, erythropoietin low serum levels, and no increase in platelets nor leukocytes. It has a relatively benign course and does not progress to leukemia.
Erythrocytosis, familial, 3
An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit, and normal serum erythropoietin levels.
Erythrocytosis, familial, 4
An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit, and normal platelet and leukocyte counts.
Celiac disease 13
A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes.
Heinz body anemias
Form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency.
Medicamentos aprovados (FDA)
2 medicamentos encontrados nos registros da FDA americana.
Variantes genéticas (ClinVar)
682 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1.713 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
56 vias biológicas associadas aos genes desta condição.
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244 ensaios clínicos encontrados, 85 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 3.673
Non-cirrhotic portal-splenic-mesenteric vein thrombosis unmasking JAK2 V617F-positive polycythemia vera.
Non-cirrhotic splanchnic venous thrombosis (SVT) can occur in myeloproliferative neoplasms. We report the case of a 69-year-old man who presented with a 2-week history of epigastric pain and was found to have simultaneous portal, splenic, and superior mesenteric vein thromboses in the absence of cirrhosis or malignancy on contrast-enhanced computed tomography. Laboratory testing revealed elevated haemoglobin/haematocrit with a low-normal mean corpuscular volume (83 fL), biochemical evidence of iron restriction, and an inappropriately low serum erythropoietin level. On further testing, JAK2 V617F was positive, and bone marrow findings supported the diagnosis of polycythemia vera (PV). This presentation is compatible with an iron-deficiency-modified PV phenotype (sometimes referred to as "masked PV"), in which iron restriction can attenuate or obscure typical erythrocytosis, and extensive non-cirrhotic SVT effectively unmasked the underlying clonal disorder. Edoxaban 30 mg once daily (body weight < 60 kg) was initiated without interruption or bleeding, and therapeutic phlebotomy was initiated to control the hematocrit. Follow-up computed tomography on day 78 demonstrated marked thrombus reduction with partial re-opacification of the main portal vein, and the patient continued to have a stable clinical course. This case highlights triple-site, non-cirrhotic SVT as a potential presenting feature of PV and supports early JAK2 V617F and erythropoietin testing, coupled with parallel anticoagulation and PV-directed management, in unexplained non-cirrhotic SVT.
Clinical and hematological profile of patients with philadelphia-negative myeloproliferative neoplasms: First report from the Ecuadorian registry.
Philadelphia-negative myeloproliferative neoplasms are clonal blood disorders characterized by abnormal blood cell production. This study explores the clinical and epidemiological profiles of 111 Ecuadorian patients diagnosed with Philadelphia-negative myeloproliferative neoplasms, including polycythemia vera, essential thrombocythemia, and primary myelofibrosis, between 2014 and 2023. Patients were treated in different institutions, with clinical data collected on disease progression, complications, and survival. Polycythemia vera was the most common subtype (45.9%), followed by essential thrombocythemia (42.3%) and primary myelofibrosis (9%). The JAK2 V617F mutation was most prevalent in essential thrombocythemia (53.2%) and polycythemia vera (41.2%). Hydroxyurea, the most widely used treatment, was prescribed to 77% of the patients. Disease progression to myelofibrosis occurred in three polycythemia vera and two essential thrombocythemia cases, meanwhile One case of primary myelofibrosis and one case of myeloproliferative neoplasm, unclassified, progressed to acute myeloid leukemia. Survival rates varied across the cohort; notably, certain patients with polycythemia vera and essential thrombocythemia achieved survival durations of up to 19 years. These results reveal a relatively homogeneous epidemiological profile across the Latin American region and underscore the need for more multicenter studies to better characterize pH- MPNs in Ecuador and the region, to optimize diagnostic and treatment strategies.
Genomic profiling for decision-making in post-polycythemia vera and post-essential thrombocythemia myelofibrosis.
Secondary myelofibrosis (SMF) represents a late stage of polycythemia vera and essential thrombocythemia, with overall survival (OS) currently defined by the MYelofibrosis SECondary to PV and ET (MYSEC) Prognostic Model (MYSEC-PM). To identify additional myeloid neoplasm-associated cancer gene variants (CGVs) associated with SMF outcome, we evaluated next-generation sequencing panel testing in 644 patients within the MYSEC cohort. Overall, 429 (66.6%) subjects reported at least one CGV, with ASXL1, TET2 and DNMT3A being the most frequently involved. Specific molecular profiles affected OS (p < .001): U2AF1, TP53 or SRSF2 variants (UTS, 9.3% of cases, median OS 4.1 years) and ASXL1 without UTS (25.3%, median OS 8.4 years). By integrating these genetic signatures within the MYSEC-PM through penalized Cox regressions, we identified the following independent predictors (p from < .0001 to .02) and weighted: hemoglobin <11 g/dl (1 point), circulating blasts ⩾3% (2), platelets <150 × 109/l (2), age (0.21 points/year), ASXL1 without UTS mutations (1) and any UTS mutations (3). Finally, we developed the MYSEC-molecular prognostic model (MYSEC-mPM) allocating 582 SMF patients into four categories with different OS (p < .001): low (median OS 18.0 years, 95%CI: 14.2-not reached; score <14), intermediate-1 (8.8. years, 95%CI: 7.7-9.7; score 14-16), intermediate-2 (4.6 years, 95%CI: 3.1-7.2; score 17-18), and high risk (1.9 years, 95%CI: 1.2-2.5; score ⩾19). Additionally, in 381 SMF with available cytogenetics, the MYSEC-mPM was implemented with complex/monosomal karyotype, generating the karyotype-enhanced MYSEC-kmPM. Our study shows that genomic and cytogenetic profiling improve survival prediction in SMF, outperforming the MYSEC-PM.
Low Serum Cholesterol Is a Biomarker of Advanced Disease and Poor Outcomes in Myeloproliferative Neoplasms.
Myeloproliferative neoplasms (MPNs), including essential thrombocythemia (ET), polycythemia vera (PV), and myelofibrosis (MF), are a diverse group of hematopoietic stem cell neoplasms associated with an increased risk of hematologic progression to secondary MF or leukemia and cardiovascular disease (CVD). Elevated total cholesterol levels are traditional CVD risk factors. Patients with MPNs may have reduced cholesterol levels, potentially reflecting an underlying hypermetabolic state. The impact of serum total cholesterol on clinical outcomes in patients with MPNs has not yet been evaluated. We performed a multicenter retrospective cohort study of patients with MPNs who had undergone transthoracic echocardiography (TTE) with available serum lipid levels at time of TTE not on statin therapy. Patients were categorized by total cholesterol level (≥ 150, 120 - 149, and < 120 mg/dL). Outcomes evaluated were MPN disease progression to secondary MF or acute leukemia, major adverse cardiovascular events (MACE), and death. Multivariable competing-risk regression modeling was performed. A total of 305 patients were included of whom 54.4% had total cholesterol ≥ 150, 21.3% 120 - 149, and 24.3% < 120 mg/dL. After a median follow-up of 50.8 months, total cholesterol < 120 was associated with increased risk of MPN disease progression (aSHR 3.00, 95% CI 1.36 - 6.63), heart failure hospitalization (aSHR 3.76, 95% CI 1.77 - 7.96), and all-cause death (aHR 1.87, 95% CI 1.06 - 3.30) vs ≥ 150 mg/dL. Among patients with MPN, low total cholesterol levels were associated with increased risk of MPN disease progression.
Pediatric Case Series with Early-Onset Dystonia: Clinical Clues of Inherited Manganese Transporter Defects.
Inherited manganese transporter defects are rare but treatable inborn errors of metabolism, typically presenting with early-onset dystonia and characteristic magnetic resonance imaging (MRI) findings. This case series included three pediatric patients: two with hypermanganesemia with dystonia type 1 (HMNDYT1) and one with type 2 (HMNDYT2). All showed early dystonia, gait disturbances, and speech difficulties. MRI revealed T1-weighted hyperintensities and T2-weighted hypointensities in the globus pallidus and substantia nigra. In HMNDYT1 cases, additional involvement of the dentate nuclei and midbrain was observed. Polycythemia was present in HMNDYT1 patients, while liver involvement was mild and limited to hyperbilirubinemia. All patients received chelation therapy with disodium calcium edetate (Na₂CaEDTA), resulting in clinical stabilization and mild motor improvement in one case, although manganese levels remained elevated. These findings highlight the importance of including manganese transporter defects in the differential diagnosis of early-onset dystonia. Early recognition is essential for effective treatment.
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Managing myelofibrosis in the frailty era: the expanding role of JAK inhibitors.
📚 EuropePMC5.281 artigos no totalmostrando 199
Non-cirrhotic portal-splenic-mesenteric vein thrombosis unmasking JAK2 V617F-positive polycythemia vera.
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Medecine sciences : M/SRheology of Twin Anemia-Polycythemia Sequence: Insights from Hemoglobin Electrophoresis - A Case Report.
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CureusClinical and hematological profile of patients with philadelphia-negative myeloproliferative neoplasms: First report from the Ecuadorian registry.
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The Journal of the Association of Physicians of IndiaAnalysis of optic nerve and macula microvasculature in patients with polycythemia vera using optical coherence tomography angiography.
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Nucleic acids researchEfficacy and safety of a three-step dose escalation regimen of ropeginterferon alfa-2b in Japanese patients with polycythemia vera: a phase 3b, single-arm, multicenter study.
International journal of hematologySpectrum and Prevalence of Comorbidities in Stable COPD Patients Attending a Chest Clinic in Nigeria.
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The clinical respiratory journalGenomic profiling for decision-making in post-polycythemia vera and post-essential thrombocythemia myelofibrosis.
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Blood advancesConsensus on the use of ropeginterferon alfa-2b in Japanese patients with polycythemia vera: a modified Delphi survey.
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World journal of gastroenterologyAssessment of HIF2α mutational pathogenicity using microscale thermophoresis.
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Scandinavian journal of clinical and laboratory investigationMyeloid sarcoma transformed from myeloproliferative neoplasm: A case report and review of literature.
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The American journal of case reportsReal-World Retrospective Report on the Efficacy, Tolerability, and Molecular Responses to Ropeginterferon-α2b in Patients with Myeloproliferative Neoplasms.
Journal of clinical medicine[Diagnostic work-up of erythrocytosis].
La Revue de medecine interneImpact of statin use on cardiovascular and hematologic outcomes among patients with myeloproliferative neoplasms.
Blood advancesJAK2-positive erythrocytosis presenting with left occipital infarction in a young adult: a case report from a resource‑limited setting.
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JCI insightTofacitinib Use in a Patient With Rheumatoid Arthritis and Polycythemia Vera: A Case Report.
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American journal of hematologyThe Epigenetic Angle in the Precision Medicine Era for Blood Disorder Advancements.
Sub-cellular biochemistryHematological Conditions in Infants With Trisomy 21.
NeoReviewsHealth-related quality of life and symptom profile of patients with BCR::ABL1-negative myeloproliferative neoplasms: Real-world evidence from the GIMEMA-PROPHECY observational study.
HemaSphereFETAL BRAIN LESIONS FOLLOWING ENDOSCOPIC LASER SURGERY IN TWIN TO TWIN TRANSFUSION SYNDROME: A MRI CLASSIFICATION.
AJNR. American journal of neuroradiologyFulminant Idiopathic Intracranial Hypertension: An Unusual Case of Polycythemia Vera.
Acta neurologica TaiwanicaLimb Salvage After Deep Tissue Infection Associated with Hydroxyurea Therapy and Recommendations for a Follow-Up Protocol in Patients Treated with Hydroxyurea.
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Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyCost-effectiveness analysis of ropeginterferon alfa-2b for the management of patients with polycythemia vera in Japan.
International journal of hematologyThromboinflammation is associated with high thrombotic risk in patients with newly diagnosed myeloproliferative neoplasms.
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Discover oncologyMyomatous erythrocytosis syndrome with unusually normal serum erythropoietin levels.
BMJ case reports[Primary familial and congenital polycythemia caused by EPOR gene mutation: two cases report and literature review].
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BloodRisk and Outcomes of Second Malignancies in Patients With Philadelphia Chromosome-Negative Myeloproliferative Neoplasm: A SEER Database Analysis.
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Heart views : the official journal of the Gulf Heart AssociationRuxolitinib and Hydroxycarbamide Are the Most Efficient Drugs to Reduce Aquagenic Pruritus Intensity in a Real-Word Cohort of Patients With Myeloproliferative Neoplasms.
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International journal of biological macromoleculesJAK2 wild-type erythrocytosis: concept, differential diagnosis, diagnostic steps, and treatment approaches.
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Transgender healthA Novel, Ruxolitinib-Sensitive, CCDC6::JAK2 Fusion Gene in a Patient With Atypical, JAK2 Unmutated, Polycythemia Vera-Like, Myeloproliferative Neoplasm.
American journal of hematologyEvaluating the feasibility of a network meta-analysis comparing treatment options in polycythemia vera.
Journal of comparative effectiveness researchRecent advancements in aptamer-mediated theranostics in the management of hematological disorders.
International journal of pharmaceuticsSynchronous Primary Hyperparathyroidism and Polycythemia Vera: A Case Report and Literature Review.
Clinical case reportsReversible Left Ventricular Dysfunction Related to Ropeginterferon Alfa-2b in Polycythemia Vera.
International heart journalShifting treatment goals in myeloproliferative neoplasms: focusing on polycythemia vera.
International journal of hematologyMesenchymal stromal cells secretory pattern contributes to oncoinflammatory bone marrow microenvironment in polycythemia vera.
Hematology, transfusion and cell therapyPredictors of Symptom Scores in Myeloproliferative Neoplasms: A Real-World Retrospective Cohort Study.
Cancer medicineLong-term safety and effectiveness of ruxolitinib in Japanese patients with polycythemia vera: a post-marketing study.
Future oncology (London, England)Hydroxyurea-induced rosacea-like eruption in polycythemia vera.
Annales de dermatologie et de venereologieMetformin alleviates side effects and supports the resumption of interferon therapy in polycythemia vera and essential thrombocythemia.
HaematologicaLow neutrophil-to-lymphocyte ratio identifies secondary polycythemia in patients with erythrocytosis.
Scientific reportsHemoglobin suresnes combined with α0-thalassemia: Diagnostic challenges and insights from trio-based whole exome sequencing.
Annals of hematologyReal-world analysis of polycythemia vera treatment reveals nonadherence to NCCN guidelines in a large proportion of patients.
Blood neoplasiaPulmonary Vascular Endothelial Dysfunction is Induced by Non-Pulsatile Pulmonary Blood Flow in an Ovine Classic Glenn Model.
bioRxiv : the preprint server for biologyPrevalence of Obstructive Sleep Apnea Among Patients with Secondary Polycythemia: A Retrospective Cross-sectional Study.
Oman medical journalUltrasound evaluation of twin pregnancies.
Pediatric radiologyRopeginterferon alfa-2b in polycythemia vera: redefining disease control through molecular targeting.
Expert review of anticancer therapyA comparative study of hematologic response to ropeginterferon alfa-2b in hydroxyurea-resistant or intolerant polycythemia vera: a real-world data-based analysis.
Blood researchWeekly injection a potential new treatment option for polycythemia vera.
CancerEfficacy and safety of ropeginterferon alfa-2b in the treatment of polycythemia vera: a systematic review with single arm meta-analysis.
Annals of hematologyMolecular advances and therapeutic potential in leveraging hepcidin.
Trends in molecular medicineThrombotic complications of glucocorticoids and anabolic steroids.
Research and practice in thrombosis and haemostasisThe Dual Role of Interferon Signaling in Myeloproliferative Neoplasms: Pathogenesis and Targeted Therapeutics.
CancersNormal Hematopoietic Stem Cells in Leukemic Bone Marrow Environment Undergo Morphological Changes Identifiable by Artificial Intelligence.
International journal of molecular sciencesPseudohyperkalemia: Two Case Reports with Literature Review.
Clinical laboratoryEffects of Delayed and Early Cord Clamping in Term Babies: A Randomized Controlled Trial.
Asia-Pacific journal of public healthJAK2/JAK2V617F heterodimers activate STAT1 and AhR to promote thrombocytosis.
The Journal of experimental medicineSecond malignancies among older patients with classical myeloproliferative neoplasms treated with ruxolitinib.
Blood neoplasiaPulmonary Vascular Endothelial Dysfunction Is Induced by Nonpulsatile Pulmonary Blood Flow in an Ovine Classic Glenn Model.
Comprehensive PhysiologyChallenges in predicting hydroxyurea resistance and reducing thrombotic risk in polycythemia vera patients: unmasking the limits of its machine learning study.
LeukemiaMonocyte-To-Lymphocyte Ratio as a Predictor of Thrombosis Progression in Patients With Polycythemia Vera: A Retrospective Study.
International journal of laboratory hematologyCytoreductive treatment differentially affects platelet size and cytoskeletal megakaryocyte organization during thrombopoiesis in myeloproliferative neoplasms.
Experimental hematologyValidation and interpretation of the Triple A model in Turkish myeloproliferative neoplasm patients with a focus on overall and thrombosis free survival.
Journal of hematopathologyPreoperative factors associated with donor twin demise in 1602 pregnancies complicated by twin-twin transfusion syndrome.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyHemoglobin and clinical outcomes of in-hospital patients with severe acute exacerbation of chronic obstructive pulmonary disease: a multicenter cohort study.
Frontiers in medicineRopeginterferon alfa-2b vs standard therapy in polycythemia vera: A meta-analysis of efficacy and safety outcomes.
World journal of clinical oncologyLow (0.1% to ≤ 1%) or Very Low (0.06% to < 0.1%) JAK2V617F Allele Burden in Routine Testing: Clinical Correlates and Clonal Trajectory.
American journal of hematologyRemoval of Toxic Metabolites-Chelation: Manganese Disorders.
Journal of inherited metabolic diseaseRusfertide rapidly decreases hematocrit in patients with suboptimally controlled polycythemia vera.
Leukemia researchLong-term efficacy and safety of ropeginterferon alfa-2b under its HIDAT regimen for the treatment of polycythemia vera.
Blood advancesSciatic Nerve Palsy Following Bone Marrow Aspiration in an Adult with Polycythemia Vera: A Rare Case Report.
JBJS case connectorHemoglobin as a Treatable Trait in COPD: A Retrospective Observational Cohort Study on Hemoglobin Levels and All-Cause Mortality from NHANES Data.
International journal of chronic obstructive pulmonary diseaseA case displaying the importance of JAK1 and JAK2 gene transcription in antifungal defense against coccidioidomycosis.
Frontiers in medicinePolycythemia secondary to renal dromedary hump in a young healthy woman: a case report.
Journal of medical case reportsEffective Treatment with Ruxolitinib and Ropeginterferon Alfa-2b for Refractory TAFRO-like Syndrome.
Internal medicine (Tokyo, Japan)Corrigendum to "Zebrafish mutants in egln1 display a hypoxic response and develop polycythemia" [Life Sci. 344 (2024) 122564].
Life sciencesAdvances in polycythemia vera treatment with targeted therapies and clinical trials.
Discover oncologyUnveiling CD177: a key player in tumors, autoimmune diseases, and inflammatory disorders.
Frontiers in immunologyCulture-negative peritonitis secondary to splenic infarcts in peritoneal dialysis: Case report and literature review.
Peritoneal dialysis international : journal of the International Society for Peritoneal DialysisBCR::ABL1-positive chronic myeloid leukaemia in a scenario of a remote diagnosis of JAK2-V617F-mutated polycythemia vera: a single patient experience with imatinib and ruxolitinib combination therapy.
Annals of hematologyHollow fiber flow field-flow fractionation enables high-quality Extracellular Vesicle isolation from minimal plasma samples in polycythemia vera liquid biopsy.
TalantaClonal Progression and Leukemic Transformation of a TP53 Mutated Post-Polycythaemia Vera Myelofibrosis.
European journal of haematologyJAK2 Unmutated Erythrocytosis: 2026 Update on Diagnosis and Management.
American journal of hematologyAssociation between waterpipe smoking, polycythaemia and cardiac risk factors among Palestinian university students: a cross-sectional study.
BMJ openMonge's disease at 100 years: Revisiting the origins and endocrine mechanisms of chronic mountain sickness.
Science progressDiscrepancies in Treatment Goals and Concerns Regarding Disease Management between Patients with Myeloproliferative Neoplasms and Hematologists in China: Analysis from a Multicenter Cross-Sectional Survey.
Acta haematologicaThioguanine Therapy in Essential Thrombocytosis and Polycythemia Vera.
Hematological oncologyThe Hemojuvelin-Hepcidin Axis as a Target for the Treatment of Anemia or Conversely Polycythemia.
American journal of hematologyPredictors of Adverse Perinatal Outcome in Twin Anemia Polycythemia Sequence: Evidence From a Single Center Cohort Study.
Prenatal diagnosisErythrocytosis-inducing PHD2 mutations implicate biological role for N-terminal prolyl-hydroxylation in HIF1α oxygen-dependent degradation domain.
eLifeAnterior Segment Involvement in Polycythemia Vera: A Case Report and Review of Literature.
Ocular immunology and inflammationAcute Myeloid Leukemia With RUNX1::RUNX1T1 Fusion Transformed From JAK2V617F-Mutated Polycythemia Vera: A Case Report.
CureusTRAKJAK: a complete blood count-based prediction of polycythemia vera at initial erythrocytosis workup to reduce financial and ecological costs.
The American journal of medicine[Initial care and stabilization of ACHD patients : Teamwork improves outcomes].
Medizinische Klinik, Intensivmedizin und NotfallmedizinReal-world experience with pacritinib for patients with myelofibrosis refractory to ruxolitinib: a report of three cases.
Hospital practice (1995)Specific risk factors for heart-lung transplantation.
JHLT openIntegrated one-pot RPA-CRISPR/Cas13a platform enables ultrasensitive and field-deployable JAK2 V617F detection for myeloproliferative neoplasm diagnosis.
Journal of pharmaceutical and biomedical analysisModulators of the hepcidin pathway in polycythemia vera and myelofibrosis.
BloodAdvances in the Diagnosis and Treatment of Myeloproliferative Neoplasms (MPNs).
CancersPrevalence of Arterial Stiffness Determined by Cardio-Ankle Vascular Index in Myeloproliferative Neoplasms.
Journal of clinical medicineResults from a US modified Delphi consensus to define disease progression and disease modification in polycythemia Vera.
Annals of hematologyHeterozygous human JAK2V617F activates AhR to drive essential thrombocythemia and promote thrombosis.
The Journal of experimental medicineSerum Erythropoietin Level in Polycythemia Vera: Is a New Cut-Off Possible?
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionAssociation of High-Altitude Polycythemia with JAK2V617F Mutation in Pakistani Population.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionThe use of laser therapy in fetal medicine: a narrative review.
Journal of perinatal medicineMonochorionic, Dizygotic, Sex Discordant Twins With Twin Anemia Polycythemia Sequence.
American journal of medical genetics. Part AMutation profiling of chronic myeloproliferative neoplasms: improving clinical-molecular prognostic models.
Expert review of molecular diagnosticsHIF-2-Dependent Regulation of PTHrP and Paraneoplastic Hypercalcemia in Aggressive Clear-Cell Renal Cell Carcinoma.
Cancer discoveryMultiple Bowen's Disease in a Patient Treated with Ruxolitinib: A Case Report and Extended Review of the Literature.
Case reports in dermatologyCharacteristics and Outcomes of IgA Nephropathy Patients With SGLT2 Inhibitor-Induced Polycythemia.
CureusEmerging Significance and Implications of a Durable Complete Molecular Remission in the Treatment of Polycythemia Vera.
Current hematologic malignancy reportsExploring the macrocyclic chemical space for heuristic drug design with deep learning models.
Communications chemistryTwo studies of Tsarang village, Upper Mustang Nepal with different results.
Journal of physiological anthropologyProteomic analysis related to the mechanism of high-altitude polycythemia in tibetans.
Biochemical and biophysical research communicationsEffect of 100 mg of testosterone cypionate in trans men with erythrocytosis: a randomized controlled pilot study.
The journal of sexual medicineComparison between New AIIMS growth chart versus Fenton growth chart for classification of small-for-gestational-age neonates at birth: A prospective observational study.
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A policitemia é o aumento anormal dos glóbulos vermelhos no sangue ou a diminuição da quantidade de líquido plasmático. Esse acúmulo de células pode alterar a circulação de oxigênio pelo organismo.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (s.d.). Policitemia. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/policitemia
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Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Policitemia
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- fonte: MONDO
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- fonte: GARD (NIH)
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- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Medicamentos aprovados FDA
- fonte: FDA OpenFDA
- Reposicionamento
- fonte: Drug Repurposing Hub
- Ensaios clínicos
- fonte: ClinicalTrials.gov
