# Policitemia

> Página oficial: https://raras.org/doenca/policitemia
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 98427 — https://www.orpha.net/en/disease/detail/98427
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

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).

## Epidemiologia e herança


## Sinais e sintomas (86 fenótipos HPO)

- **Dor abdominal** — HPO: HP:0002027
- **Hemoglobina anormal** — HPO: HP:0011902
- **Insônia** — HPO: HP:0100785
- **Úlcera péptica** — HPO: HP:0004398
- **Aterosclerose da artéria coronária** — HPO: HP:0001677
- **Colecistite** — HPO: HP:0001082
- **Sobrepeso** — HPO: HP:0025502
- **Hipernatriúria** — HPO: HP:0012605
- **Pressão arterial diastólica elevada** — HPO: HP:0005117
- **Estenose arterial periférica** — HPO: HP:0004950
- **Espasmo muscular** — HPO: HP:0003394
- **Hipercolesterolemia** — HPO: HP:0003124
- **Hipertrigliceridemia** — HPO: HP:0002155
- **Hiperproteinemia** — HPO: HP:0002152
- **Hiperuricemia** — HPO: HP:0002149
- **Obesidade** — HPO: HP:0001513
- **Aumento do nível circulante de renina** — HPO: HP:0000848
- **Ansiedade** — HPO: HP:0000739
- **Hipercoagulabilidade** — HPO: HP:0100724
- **Contagem elevada de células plasmáticas** — HPO: HP:0025619
- **Aumento da concentração de hemoglobina corpuscular média** — HPO: HP:0025548
- **Aumento da contagem de eritrócitos** — HPO: HP:0020059
- **Hipovolemia** — HPO: HP:0011106
- **Diabetes mellitus** — HPO: HP:0000819
- **Nefrocalcinose** — HPO: HP:0000121
- **Dor epigástrica** — HPO: HP:0410019
- **Tosse** — HPO: HP:0012735
- **Dispneia** — HPO: HP:0002094
- **Sangramento anormal** — HPO: HP:0001892
- **Gota** — HPO: HP:0001997
- **Varizes** — HPO: HP:0002619
- **Trombose venosa** — HPO: HP:0004936
- **Saciedade precoce** — HPO: HP:0033842
- **Perda de peso** — HPO: HP:0001824
- **Claudicação intermitente** — HPO: HP:0004417
- **Hepatomegalia** — HPO: HP:0002240
- **Hemorragia cerebral** — HPO: HP:0001342
- **Aumento da concentração circulante de hemoglobina** — HPO: HP:0001900
- **Trombose anormal** — HPO: HP:0001977
- **Isquemia cerebral** — HPO: HP:0002637
- _...e mais 46 sintomas. Ver https://raras.org/doenca/policitemia._

## Genes associados (11)

- **EPO** — Erythropoietin [Disease-causing germline mutation(s) in]
  - Função: 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 leadin
- **BPGM** — Bisphosphoglycerate mutase [Candidate gene tested in]
  - Função: 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
- **HBB** — Hemoglobin subunit beta [Disease-causing germline mutation(s) in]
  - Função: 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 inh
- **VHL** — von Hippel-Lindau disease tumor suppressor [Disease-causing germline mutation(s) in]
  - Função: 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 rec
- **HBA2** — Hemoglobin subunit alpha [Disease-causing germline mutation(s) in]
  - Função: 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 efficient
- **EPOR** — Erythropoietin receptor [Disease-causing germline mutation(s) in]
  - Função: Receptor for erythropoietin, which mediates erythropoietin-induced erythroblast proliferation and differentiation (PubMed:10388848, PubMed:2163695, PubMed:2163696, PubMed:8662939, PubMed:9774108). Upo
- **EGLN1** — Egl nine homolog 1 [Disease-causing germline mutation(s) in]
  - Função: 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
- **EPAS1** — Endothelial PAS domain-containing protein 1 [Disease-causing germline mutation(s) in]
  - Função: 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 ta
- **SH2B3** — SH2B adapter protein 3 [Disease-causing germline mutation(s) in]
  - Função: Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase
- **JAK2** — Tyrosine-protein kinase JAK2 [Disease-causing germline mutation(s) in]
  - Função: 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 i
- **HBA1** — Hemoglobin subunit alpha [Disease-causing germline mutation(s) in]
  - Função: 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 efficient

## Ensaios clínicos ativos (40)

- **NCT06517875** [RECRUITING]: Study of Momelotinib in Combination With Luspatercept in Participants With Transfusion Dependent Myelofibrosis — https://clinicaltrials.gov/study/NCT06517875
- **NCT07357727** [RECRUITING]: A Phase 3 Study of Pelabresib (DAK539) and Ruxolitinib in Myelofibrosis (MF) — https://clinicaltrials.gov/study/NCT07357727
- **NCT06661915** [RECRUITING]: A Randomized Study of ASTX727 With or Without Iadademstat in Advanced Myeloproliferative Neoplasms (MPNs) — https://clinicaltrials.gov/study/NCT06661915
- **NCT06351631** [RECRUITING]: A Study to Evaluate Safety and Efficacy of Bomedemstat (MK-3543-017) — https://clinicaltrials.gov/study/NCT06351631
- **NCT07469891** [RECRUITING]: A Phase 1 Study of PRT12396 in Participants With Select Myeloproliferative Neoplasms — https://clinicaltrials.gov/study/NCT07469891
- **NCT06976918** [RECRUITING]: Registry Platform Myelofibrosis and Anemia — https://clinicaltrials.gov/study/NCT06976918
- **NCT06063486** [RECRUITING]: Curcumin to Improve Inflammation and Symptoms in Patients With Clonal Cytopenia of Undetermined Significance, Low Risk Myelodysplastic Syndrome, and Myeloproliferative Neoplasms — https://clinicaltrials.gov/study/NCT06063486
- **NCT06343805** [RECRUITING]: A Phase 1 Study of AJ1-11095 in Patients With Primary Myelofibrosis (PMF), Post-Polycythemia Vera Myelofibrosis (PPV-MF), or Post-Essential Thrombocythemia Myelofibrosis (PET-MF) Who Have Been Failed by a Type I JAK2 Inhibitor (JAK2i) — https://clinicaltrials.gov/study/NCT06343805
- **NCT06093672** [RECRUITING]: Study on Efficacy and Safety of Givinostat Versus Hydroxyurea in Patients With Polycythemia Vera — https://clinicaltrials.gov/study/NCT06093672
- **NCT05198960** [RECRUITING]: AVAJAK: Apixaban/Rivaroxaban Versus Aspirin for Primary Prevention of Thrombo-embolic Complications in JAK2V617F-positive Myeloproliferative Neoplasms — https://clinicaltrials.gov/study/NCT05198960

## Doenças relacionadas (por similaridade fenotípica)

- [Doença mieloproliferativa crônica](https://raras.org/doenca/doenca-mieloproliferativa-cronica) — ORPHA:98274 — 50 sintomas em comum
- [Hemopatia mieloide](https://raras.org/doenca/hemopatia-mieloide) — ORPHA:171895 — 50 sintomas em comum
- [Policitemia secundária](https://raras.org/doenca/policitemia-secundaria) — ORPHA:98428 — 47 sintomas em comum
- [Policitemia vera](https://raras.org/doenca/729) — ORPHA:729 — 44 sintomas em comum
- [Policitemia secundária adquirida](https://raras.org/doenca/policitemia-secundaria-adquirida) — ORPHA:238547 — 37 sintomas em comum
- [Síndrome Gaisböck](https://raras.org/doenca/sindrome-gaisbock) — ORPHA:90041 — 36 sintomas em comum
- [Aplasia constitucional medular do adulto](https://raras.org/doenca/aplasia-constitucional-medular-do-adulto) — ORPHA:164823 — 26 sintomas em comum
- [Policitemia primária familiar](https://raras.org/doenca/policitemia-primaria-familiar) — ORPHA:90042 — 24 sintomas em comum
- [Necrose avascular](https://raras.org/doenca/necrose-avascular) — ORPHA:399164 — 23 sintomas em comum
- [Miopatia e fasciite inflamatórias adquiridas](https://raras.org/doenca/miopatia-e-fasciite-inflamatorias-adquiridas) — ORPHA:98482 — 21 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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