# Hemofilia

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

## Identificadores

- **ORPHA**: 448 — https://www.orpha.net/en/disease/detail/448
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Doença hematológica rara caracterizada por hemorragia espontânea ou sangramento prolongado devido à deficiência de fator VIII ou IX.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000
- **Padrão de herança**: X-linked recessive

## Sinais e sintomas (59 fenótipos HPO)

- **Artralgia** — HPO: HP:0002829
- **Tempo de sangramento prolongado** — HPO: HP:0003010
- **Epistaxe espontânea e recorrente** — HPO: HP:0004406
- **Ruptura esplênica** — HPO: HP:0012223
- **Sangramento de início tardio** — HPO: HP:0040232
- **Tromboembolismo** — HPO: HP:0001907
- **Menometrorragia** — HPO: HP:0400008
- **Anormalidade do cotovelo** — HPO: HP:0009811
- **Anormalidade da via intrínseca** — HPO: HP:0010989
- **Tempo de coagulação do sangue total prolongado** — HPO: HP:0005542
- **Atividade reduzida do fator IX** — HPO: HP:0011858
- **Tempo de protrombina prolongado** — HPO: HP:0008151
- **Petéquias** — HPO: HP:0000967
- **Suscetibilidade a hematomas** — HPO: HP:0000978
- **Melena** — HPO: HP:0002249
- **Hemorragia gastrointestinal** — HPO: HP:0002239
- **Epistaxe** — HPO: HP:0000421
- **Tempo de tromboplastina parcial prolongado** — HPO: HP:0003645
- **Hemorragia articular** — HPO: HP:0005261
- **Sangramento persistente após trauma** — HPO: HP:0001934
- **Osteoartrite** — HPO: HP:0002758
- **Hematêmese** — HPO: HP:0002248
- **Hematúria** — HPO: HP:0000790
- **Atividade reduzida do fator VIII** — HPO: HP:0003125
- **Sangramento anormal** — HPO: HP:0001892
- **Atividade reduzida do fator XI** — HPO: HP:0001929
- **Hematomas espontâneos** — HPO: HP:0007420
- **Sangramento prolongado após extração dentária** — HPO: HP:0006298
- **Sangramento prolongado após procedimento** — HPO: HP:0011890
- **Hemorragia pós-parto** — HPO: HP:0011891
- **Menorragia** — HPO: HP:0000132
- **Sangramento prolongado após cirurgia** — HPO: HP:0004846
- **Hemorragia epidural** — HPO: HP:0100310
- **Sangramento com trauma leve ou sem trauma** — HPO: HP:0011889
- **Limitação da mobilidade articular** — HPO: HP:0001376
- **Hemorragia intracraniana** — HPO: HP:0002170
- **Artropatia** — HPO: HP:0003040
- **Inchaço articular** — HPO: HP:0001386
- **Sangramento da cavidade oral** — HPO: HP:0030140
- **Sangramento gengival** — HPO: HP:0000225
- _...e mais 19 sintomas. Ver https://raras.org/doenca/hemofilia._

## Genes associados (3)

- **F8** — Coagulation factor VIII [Disease-causing germline mutation(s) in]
  - Função: Factor VIII, along with calcium and phospholipid, acts as a cofactor for F9/factor IXa when it converts F10/factor X to the activated form, factor Xa
- **F9** — Coagulation factor IX [Disease-causing germline mutation(s) in]
  - Função: Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipid
- **F11** — Coagulation factor XI [Disease-causing germline mutation(s) in]
  - Função: Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX

## Medicamentos em desenvolvimento (13)

- SIMOCTOCOG ALFA — Fase Phase 4 (Coagulation factor VIII exogenous protein)
- EMICIZUMAB — Fase Phase 4 (Coagulation factor IX and X other)
- EFMOROCTOCOG ALFA — Fase Phase 4 (Coagulation factor VIII exogenous protein)
- ANTIHEMOPHILIC FACTOR, PEGYLATED (MW 20000) HUMAN SEQUENCE RECOMBINANT — Fase Phase 4 (Coagulation factor VIII exogenous protein)
- EPTACOG BETA (ACTIVATED) — Fase Phase 4 (Coagulation factor VII exogenous protein)
- TRANEXAMIC ACID — Fase Phase 4 (Plasminogen inhibitor)
- EPTACOG ALFA (ACTIVATED) — Fase Phase 4 (Coagulation factor VII exogenous protein)
- NONACOG BETA PEGOL — Fase Phase 4 (Coagulation factor IX exogenous protein)
- COAGULATION FACTOR IX HUMAN — Fase Phase 4 (Coagulation factor IX exogenous protein)
- ALBUTREPENONACOG ALFA — Fase Phase 4 (Coagulation factor IX exogenous protein)
- Fonte: https://platform.opentargets.org/disease/MONDO_0018660

## Ensaios clínicos ativos (36)

- **NCT06820515** [RECRUITING]: ATHNdataset Registry — https://clinicaltrials.gov/study/NCT06820515
- **NCT07285460** [RECRUITING]: A Study to Investigate the Efficacy and Safety of Fitusiran Prophylaxis in Male Participants Aged 1 to Less Than 12 Years With Hemophilia A or B — https://clinicaltrials.gov/study/NCT07285460
- **NCT07080905** [RECRUITING]: Phase 3, Open-label, Single-dose Study of CSL222 in Adolescent Male Subjects (≥ 12 to < 18 Years of Age) With Severe or Moderately Severe Hemophilia B — https://clinicaltrials.gov/study/NCT07080905
- **NCT06222697** [RECRUITING]: A Study to Learn More About the Safety of Damoctocog-alfa-pegol When Used in Routine Medical Care in Korean Participants With Hemophilia A — https://clinicaltrials.gov/study/NCT06222697
- **NCT06379789** [RECRUITING]: A Study to Investigate the Safety and Effectiveness of a Coagulation Factor IX Gene Insertion Therapy (REGV131-LNP1265) in Pediatric, Adolescent and Adult Participants With Hemophilia B — https://clinicaltrials.gov/study/NCT06379789
- **NCT05145127** [RECRUITING]: Open-Label Extension Study of Marstacimab in Hemophilia Participants With or Without Inhibitors — https://clinicaltrials.gov/study/NCT05145127
- **NCT07416526** [RECRUITING]: A Clinical Study to Evaluate the Effects of NXT007 Compared to Factor VIII Prophylaxis in Participants With Hemophilia A — https://clinicaltrials.gov/study/NCT07416526
- **NCT07523399** [RECRUITING]: Joint Health, Balance and Quality of Life in Adults With Hemophilia A — https://clinicaltrials.gov/study/NCT07523399
- **NCT05568719** [RECRUITING]: Safety and Effectiveness of Giroctocogene Fitelparvovec or Fidanacogene Elaparvovec in Patients With Hemophilia A or B Respectively — https://clinicaltrials.gov/study/NCT05568719
- **NCT07416604** [RECRUITING]: A Clinical Study to Evaluate the Effects of NXT007 Compared to Emicizumab Prophylaxis in People With Hemophilia A — https://clinicaltrials.gov/study/NCT07416604

## Doenças relacionadas (por similaridade fenotípica)

- [Hemofilia A](https://raras.org/doenca/hemofilia-a) — ORPHA:98878 — 50 sintomas em comum
- [Hemofilia A grave](https://raras.org/doenca/hemofilia-a-grave) — ORPHA:169802 — 27 sintomas em comum
- [Hemofilia A moderada](https://raras.org/doenca/hemofilia-a-moderada) — ORPHA:169805 — 26 sintomas em comum
- [Hemofilia B](https://raras.org/doenca/hemofilia-b) — ORPHA:98879 — 24 sintomas em comum
- [Deficiência congênita de fatores de coagulação dependentes da vitamina K](https://raras.org/doenca/deficiencia-congenita-de-fatores-de-coagulacao-dependentes-da-vitamina-k) — ORPHA:169826 — 23 sintomas em comum
- [Deficiência combinada hereditária dos fatores de coagulação vitamina K-dependente](https://raras.org/doenca/deficiencia-combinada-hereditaria-dos-fatores-de-coagulacao-vitamina-k-dependente) — ORPHA:98434 — 23 sintomas em comum
- [Deficiência de fator V congênita](https://raras.org/doenca/deficiencia-de-fator-v-congenita) — ORPHA:326 — 21 sintomas em comum
- [Deficiência de fator XIII congênita](https://raras.org/doenca/deficiencia-de-fator-xiii-congenita) — ORPHA:331 — 19 sintomas em comum
- [Deficiência de fator II congênita](https://raras.org/doenca/deficiencia-de-fator-ii-congenita) — ORPHA:325 — 19 sintomas em comum
- [Deficiência combinada de fator V e fator VIII](https://raras.org/doenca/deficiencia-combinada-de-fator-v-e-fator-viii) — ORPHA:35909 — 17 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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**Citação sugerida**: Raras.org — Hemofilia. Disponível em: https://raras.org/doenca/hemofilia
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