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
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).
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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.
Hormone involved in the regulation of erythrocyte proliferation and differentiation and the maintenance of a physiological level of circulating erythrocyte mass (PubMed:28283061). Binds to EPOR leading to EPOR dimerization and JAK2 activation thereby activating specific downstream effectors, including STAT1 and STAT3 (PubMed:9774108)
Secreted
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.
Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric effector 2,3-bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 5.4.2.11) activity
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.
Involved in oxygen transport from the lung to the various peripheral tissues LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure Functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signaling, these properties implicate it as a regulator of pain and inflammation
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.
Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex (PubMed:10944113, PubMed:17981124, PubMed:19584355). Seems to act as a target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions (PubMed:10944113, PubMed:17981124). Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases (PubMed:10944113, PubMed:1
CytoplasmCell membraneEndoplasmic reticulumNucleus
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.
Involved in oxygen transport from the lung to the various peripheral tissues Hemopressin acts as an antagonist peptide of the cannabinoid receptor CNR1 (PubMed:18077343). Hemopressin-binding efficiently blocks cannabinoid receptor CNR1 and subsequent signaling (PubMed:18077343)
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.
Receptor for erythropoietin, which mediates erythropoietin-induced erythroblast proliferation and differentiation (PubMed:10388848, PubMed:2163695, PubMed:2163696, PubMed:8662939, PubMed:9774108). Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade (By similarity). In some cell types, can also activate STAT1 and STAT3 (PubMed:11756159). May also activate the LYN tyrosine kinase (By similarity) Acts as a dominant-negative receptor of EPOR-mediated signaling
Cell membraneSecreted
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.
Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF1B. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquiti
CytoplasmNucleus
Erythrocytosis, familial, 3
An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit, and normal serum erythropoietin levels.
Transcription factor involved in the induction of oxygen regulated genes. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier.
NucleusNucleus speckle
Erythrocytosis, familial, 4
An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit, and normal platelet and leukocyte counts.
Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase
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.
Non-receptor tyrosine kinase involved in various processes such as cell growth, development, differentiation or histone modifications. Mediates essential signaling events in both innate and adaptive immunity. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors such as growth hormone (GHR), prolactin (PRLR), leptin (LEPR), erythropoietin (EPOR), thrombopoietin receptor (MPL/TPOR); or type II receptors including IFN-alpha, IFN-beta, IFN-gamma and
Endomembrane systemCytoplasmNucleus
Involved in oxygen transport from the lung to the various peripheral tissues Hemopressin acts as an antagonist peptide of the cannabinoid receptor CNR1 (PubMed:18077343). Hemopressin-binding efficiently blocks cannabinoid receptor CNR1 and subsequent signaling (PubMed:18077343)
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.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
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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.
Publicações recentes
Pernicious Anemia Resulting in Intramedullary Hemolysis, Masking Underlying Polycythemia Vera and Mild Alpha-Thalassemia-A Case Report.
Neonatal priapism revealing polycythemia: A rare association-Case report.
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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.
Clinical journal of gastroenterology[Identification of a hepatic-like erythropoietin associated with a novel cause of polycythemia].
Medecine sciences : M/SRheology of Twin Anemia-Polycythemia Sequence: Insights from Hemoglobin Electrophoresis - A Case Report.
Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie[Mutation characteristics and prognosis of patients with Fanconi anemia signaling pathway gene mutation myeloproliferative neoplasm].
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JACC. Case reportsMiddle cerebral artery Doppler velocity discordance in the first two weeks after laser for Twin to Twin Transfusion Syndrome.
American journal of obstetrics & gynecology MFM[Research Progress of Megakaryocyte Morphology in the Prognosis of Primary Myelofibrosis--Review].
Zhongguo shi yan xue ye xue za zhiWhen the Air Gets Thin, and the Blood Gets Thick: Choroidal Hemangioma in High-Altitude Polycythemia.
CureusClinical and hematological profile of patients with philadelphia-negative myeloproliferative neoplasms: First report from the Ecuadorian registry.
Hematology, transfusion and cell therapyPalliative Balloon Pulmonary Valvotomy Enhances Immediate Postoperative Outcomes in Severely Cyanotic Patients With Tetralogy of Fallot.
World journal for pediatric & congenital heart surgeryCoexistent Antiphospholipid Syndrome with Polycythemia Vera in a 25-year-old Lady Presented with Splenic Vein Thrombosis.
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.
International ophthalmologyDiagnosis and management of mirror syndrome: a case series with emphasis on the potential role of the sFLT-1/PlGF ratio in clinical practice.
Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e ObstetriciaCurrent research on the HIF-2α-EPO-Hb axis in hypoxic environments: from molecular mechanisms to clinical.
Frontiers in medicineAlternative polyadenylation links RNA processing to iron metabolism in human erythropoiesis.
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.
West African journal of medicineComplex Aortic Plaques and Polycythemia Vera Presenting as Blue Toe Syndrome Without Peripheral Arterial Disease.
JACC. Case reportsSimple virilizing form of 21-hydroxylase deficiency presenting with renal Insufficiency and polycythemia: a case report.
Frontiers in endocrinologyDevelopment and Validation of Prediction Models for Severe Obstructive Sleep Apnea Based on Periodic Health Examinations.
The clinical respiratory journalGenomic profiling for decision-making in post-polycythemia vera and post-essential thrombocythemia myelofibrosis.
BloodLow Serum Cholesterol Is a Biomarker of Advanced Disease and Poor Outcomes in Myeloproliferative Neoplasms.
Blood advancesConsensus on the use of ropeginterferon alfa-2b in Japanese patients with polycythemia vera: a modified Delphi survey.
International journal of hematologyHigher hemoglobin levels within reference interval are associated with elevated cardiometabolic traits in a birth cohort of 16-yr-old adolescents.
American journal of physiology. Endocrinology and metabolismFrom essential thrombocythemia to polycythemia vera (ET-2-PV): rationale and design of a multicenter ELN study.
Annals of hematologyThrombo-inflammatory endothelial signatures in JAK2 -mutated myeloproliferative neoplasms.
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CureusEvacuation of axillary hematoma causing brachial plexus compression in newly diagnosed leukemia: a case report and literature review.
Case reports in plastic surgery & hand surgeryAnabolic Androgen Abuse-Associated Cerebral Venous Sinus Thrombosis in a Young Adult: A Case Report.
CureusRisk stratification of patients with TP53-mutated myeloproliferative neoplasms.
LeukemiaInitiation and Maintenance of Low-Dose Transdermal Testosterone in Non-Binary Individuals: A Retrospective Audit.
Clinical endocrinologyPediatric Case Series with Early-Onset Dystonia: Clinical Clues of Inherited Manganese Transporter Defects.
Annals of Indian Academy of NeurologyProspective observational study to assess the prognosis of patients with myeloproliferative neoplasms in Japan (MPN-15): results of baseline analysis.
International journal of hematologyRisk of Transformation to Acute Myeloid Leukaemia and Myelodysplastic Syndromes in Patients With Myeloproliferative Neoplasms Over Attained Age and Time Since Diagnosis: A Nationwide Cohort Study.
European journal of haematologyWhy JAK2-mutated neutrophils deserve to be on center stage in polycythemia vera.
Annals of hematologyTP53 Mutations and Circulating Blasts ≥ 20% Are the Primary Determinants of Survival in Accelerated/Blast-Phase Myeloproliferative Neoplasms Treated With Frontline Venetoclax Plus Hypomethylating Agent.
American journal of hematologyPOEMS syndrome with cardiovascular lesions as the initial manifestation: a case report and literature review.
Frontiers in cardiovascular medicineManagement of Borderline Twin-to-Twin Transfusion Syndrome With Fetoscopic Laser Therapy in a Monochorionic Diamniotic Twin Pregnancy.
CureusImmature Platelet Fraction as a Potential Biomarker of Dysregulated Thrombopoiesis in Philadelphia-Negative Myeloproliferative Neoplasms.
Journal of clinical medicinePolycythemia vera as a cause of systemic hypertension.
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Frontiers in oncology[External validation and incremental value assessment of the RR6 prognostic model in Chinese myelofibrosis patients treated with ruxolitinib: focusing on overall survival].
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Annals of hematologyDeferred cord clamping (DCC) at 1 min versus 3 min in preterm neonates - an open label randomized, controlled trial.
European journal of pediatricsDevelopment and validation of a machine learning based early warning scoring system for high altitude polycythemia.
Frontiers in public health[Clinical phenotype and genetic analysis of a child with Hereditary hemorrhagic telangiectasia combined with growth hormone deficiency due to variant of ENG gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsPreserving thrombosis and life years in polycythemia vera: start by reading the biology of the disease.
HaematologicaSentinel trends in donor hemoglobin values and low-hemoglobin deferrals in a large US blood center.
TransfusionAssociation between EPAS1 and ATP6V1E2 polymorphisms and susceptibility to high altitude polycythemia in Chinese Tibetan population.
Frontiers in medicineEarly catheter-directed portal vein thrombolysis in myeloproliferative disorder-related diffuse mesenteric venous ischemia: A case report.
World journal of gastroenterologyAssessment of HIF2α mutational pathogenicity using microscale thermophoresis.
Biology methods & protocolsErythropoietin-Secreting uterine leiomyoma presenting with secondary erythrocytosis: A case report.
Gynecologic oncology reportsRe-ascent triggered high-altitude pulmonary and cerebral edema in a Tibetan with pre-existing high-altitude polycythemia: a Case Report.
Frontiers in physiologyDemographics, clinical features, and comorbidities of high-altitude polycythaemia: a multicentre, retrospective, observational study.
Journal of global healthIncrease in mean corpuscular volume during treatment with hydroxyurea in patients with essential thrombocythemia and polycythemia vera does not predict clinical outcomes.
Scandinavian journal of clinical and laboratory investigationMyeloid sarcoma transformed from myeloproliferative neoplasm: A case report and review of literature.
World journal of clinical oncologyRopeginterferon alfa-2b has minimal transplacental passage and breastmilk secretion in pregnant MPN patients.
Blood advancesVaping-Induced Erythrocytosis Resolved With Cessation of e-Cigarette Use.
Clinical case reportsPolycythemia vera and stiff-person syndrome: a case report.
BMC neurologyDiagnostic reassessment in myeloproliferative neoplasms: the value of functional iron parameters and JAK2 allelic burden.
Annals of hematologyMulti-omics analysis reveals the protective effects of Tibetan Medicine dalijuzhou powder on high-altitude polycythemia.
Journal of ethnopharmacologyAutosomal Dominant Erythrocytosis Caused by Non-Renal Erythropoietin (EPO) Due to EPO c.-136 G>A Germline Mutation.
American journal of hematologyAcute psychosis following initiation of ruxolitinib in post-polycythaemia vera myelofibrosis case report.
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Journal of cancer research and clinical oncologyGlobal research trends and future directions for Janus kinase inhibitors in rheumatoid arthritis: a comprehensive bibliometric analysis.
Naunyn-Schmiedeberg's archives of pharmacology<p>Prolyl hydroxylase domain proteins: Localization, regulation, function and their role in erythropoiesis (Review)</p>.
Molecular medicine reportsCD34-positive circulating cells quantification during follow-up in myeloproliferative neoplasms.
Annals of hematologyElevated serum erythropoietin level in JAK2+ polycythemia vera with small vessel Budd-Chiari syndrome.
BloodPharmacologic Inhibition of JAK1/2 Potentiates Aminoglycoside-Induced Ototoxicity.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyEvaluating inflammatory markers in distinguishing polycythemia Vera from secondary polycythemia: a prospect for novel diagnostic marker.
Annals of hematologyPolycythemia Vera and Essential Thrombocythemia: A Nationwide Population-Based Study on Treatment Patterns, Vascular Complications and Survival.
European journal of haematologyDiagnosis and Management of Spontaneous Twin Anemia Polycythemia Sequence during Early Second Trimester: A Case Report.
Fetal diagnosis and therapyHLTF cooperates with GATA1 to activate transcriptional programs and chromatin remodeling during erythroid development.
Nucleic acids researchGiant Uterine Fibroid Complicated by Abnormal Erythrocytosis in a 33-Year-Old Woman: A Case Report.
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.
Annals of medicine and surgery (2012)IRP1 deficiency alters mitochondrial metabolism and protects against metabolic syndrome pathologies.
JCI insightTofacitinib Use in a Patient With Rheumatoid Arthritis and Polycythemia Vera: A Case Report.
Clinical case reportsErythropoietin Expression and Regulation: Piecing Together Known Mechanisms and Emerging Insights.
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.
Journal of clinical medicineSpinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up.
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.
LeukemiaVariant analysis and biochemical investigation in two siblings with late onset idiopathic secondary erythrocytosis: A case report.
MedicineChronic hypoxia and mediastinal mass: think about a pulmonary artery to left atrial fistula!
Journal of cardiology casesElevated red cell distribution width is an indicator for chronic mountain sickness in high altitude polycythemia patients: A retrospective study.
Respiratory medicineGender influences prognosis of classical BCR::ABL1 negative myeloproliferative neoplasms: a retrospective cohort study.
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].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiThe role of CD38 in monocytes during fibrotic progression of myeloproliferative neoplasms.
BloodRisk and Outcomes of Second Malignancies in Patients With Philadelphia Chromosome-Negative Myeloproliferative Neoplasm: A SEER Database Analysis.
JCO oncology practiceAcute Coronary Syndrome in Essential Thrombocythemia and Polycythemia Vera.
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.
EJHaemThe Impact of Maternal Body Mass Index on Fetoscopic Laser Surgery for Twin-Twin Transfusion Syndrome.
Fetal diagnosis and therapyNetwork pharmacology-based analysis of the antithrombotic clinical efficacy and antithrombotic mechanism of Huoxue Jiedu prescription in the treatment of polycythemia vera with heat toxin and blood stasis syndrome.
Journal of traditional Chinese medicine = Chung i tsa chih ying wen panPrevalence of Chronic Obstructive Pulmonary Disease and Asthma in Polycythemia Vera and Essential Thrombocythemia and Its Prognostic Implications.
Journal of clinical medicineErythrocytosis and thromboembolic risks associated with SGLT2 inhibitors in type 2 diabetes.
Scientific reportsOncostatin M induced by STAT5-activating oncogenes promotes disease progression in hematologic malignancies.
Signal transduction and targeted therapyToward new therapy end points in polycythemia vera: targeting clonal and inflammatory pathways.
Blood advancesInterferon alpha in myeloproliferative neoplasms: evidence and practical considerations for clinical care.
Leukemia & lymphomaNew human bisphosphoglycerate mutase structures provide insights into the structural basis of BPGM deficiency and citrate inhibition.
International journal of biological macromoleculesJAK2 wild-type erythrocytosis: concept, differential diagnosis, diagnostic steps, and treatment approaches.
Hematology. American Society of Hematology. Education ProgramPlatelets display immunophenotypic alterations and dysregulated transcriptomic signature in Philadelphia-negative myeloproliferative neoplasms.
Thrombosis researchThe Utility of Serum Free Testosterone Concentrations in Monitoring Gender-Affirming Testosterone Therapy in Transmasculine Youth with Obesity.
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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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.
- Non-cirrhotic portal-splenic-mesenteric vein thrombosis unmasking JAK2 V617F-positive polycythemia vera.
- Clinical and hematological profile of patients with philadelphia-negative myeloproliferative neoplasms: First report from the Ecuadorian registry.
- Genomic profiling for decision-making in post-polycythemia vera and post-essential thrombocythemia myelofibrosis.
- Low Serum Cholesterol Is a Biomarker of Advanced Disease and Poor Outcomes in Myeloproliferative Neoplasms.
- Pediatric Case Series with Early-Onset Dystonia: Clinical Clues of Inherited Manganese Transporter Defects.
- Pernicious Anemia Resulting in Intramedullary Hemolysis, Masking Underlying Polycythemia Vera and Mild Alpha-Thalassemia-A Case Report.
- Correction: Case report: Woven-like coronary arteries in a patient with polycythemia vera.
- Neonatal priapism revealing polycythemia: A rare association-Case report.
- Abnormal Eosinophils With Large, Distinctly Basophilic Granules (Harlequin Cells) on Peripheral Blood Smear: A Clue for Diagnosing Chronic Myeloid Leukemia.
- Managing myelofibrosis in the frailty era: the expanding role of JAK inhibitors.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98427(Orphanet)
- MONDO:0005571(MONDO)
- Policitemia Vera(PCDT · Ministério da Saúde)
- GARD:19466(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q933716(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
