# Alfa-talassemia

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

## Identificadores

- **ORPHA**: 846 — https://www.orpha.net/en/disease/detail/846
- **CID-10**: D56.0
- **OMIM**: OMIM:604131 — https://omim.org/entry/604131

## Descrição clínica

Hemoglobinopatia hereditária rara caracterizada pelo comprometimento da síntese de duas a quatro cadeias de alfa-globina, levando a um quadro clínico variável que depende do número de alelos afetados.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal recessive

## Sinais e sintomas (32 fenótipos HPO)

- **Anisopoiquilocitose** — HPO: HP:0004823 (Ocasional (29-5%))
- **Hematopoiese extramedular** — HPO: HP:0001978 (Frequente (79-30%))
- **Hidropsia fetal** — HPO: HP:0001789 (Ocasional (29-5%))
- **Edema generalizado** — HPO: HP:0007430 (Frequente (79-30%))
- **Hiperesplenismo** — HPO: HP:0001971 (Ocasional (29-5%))
- **Anemia** — HPO: HP:0001903 (Ocasional (29-5%))
- **Comprometimento cognitivo** — HPO: HP:0100543 (Ocasional (29-5%))
- **Insuficiência cardíaca congestiva** — HPO: HP:0001635 (Frequente (79-30%))
- **Proeminência malar** — HPO: HP:0010620 (Ocasional (29-5%))
- **Derrame pericárdico** — HPO: HP:0001698 (Frequente (79-30%))
- **Colelitíase** — HPO: HP:0001081 (Ocasional (29-5%))
- **Anormalidade da fisiologia do sistema imunológico** — HPO: HP:0010978 (Ocasional (29-5%))
- **Esplenomegalia** — HPO: HP:0001744 (Ocasional (29-5%))
- **Reticulocitose** — HPO: HP:0001923 (Frequente (79-30%))
- **Hiperplasia da maxila** — HPO: HP:0430028 (Ocasional (29-5%))
- **Icterícia** — HPO: HP:0000952 (Ocasional (29-5%))
- **Anemia hemolítica** — HPO: HP:0001878 (Ocasional (29-5%))
- **Hemoglobina anormal** — HPO: HP:0011902 (Muito frequente (99-80%))
- **Derrame pleural** — HPO: HP:0002202 (Frequente (79-30%))
- **Hemoglobina Barts** — HPO: HP:0005507 (Ocasional (29-5%))
- **Mielodisplasia** — HPO: HP:0002863 (Ocasional (29-5%))
- **Anemia microcítica** — HPO: HP:0001935 (Muito frequente (99-80%))
- **Hepatoesplenomegalia** — HPO: HP:0001433 (Frequente (79-30%))
- **Razão de síntese alfa/beta reduzida** — HPO: HP:0011907
- **Hemoglobina HbH** — HPO: HP:0011903
- **Hepatomegalia** — HPO: HP:0002240
- **Anemia microcítica hipocrômica** — HPO: HP:0004840
- **Oligodramnia** — HPO: HP:0001562
- **Hidrocefalia** — HPO: HP:0000238
- **Pericardite** — HPO: HP:0001701
- **Palidez** — HPO: HP:0000980
- **Polidrâmnio** — HPO: HP:0001561

## Genes associados (2)

- **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
- **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

## Ensaios clínicos ativos (11)

- **NCT04872179** [RECRUITING]: International Registry of Patients With Alpha Thalassemia — https://clinicaltrials.gov/study/NCT04872179
- **NCT06539169** [RECRUITING]: FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases — https://clinicaltrials.gov/study/NCT06539169
- **NCT06591936** [RECRUITING]: Genetic Profile of Alpha Thalassemia Children at Sohag University Hospital . — https://clinicaltrials.gov/study/NCT06591936
- **NCT06107400** [RECRUITING]: Safety and Efficacy of RM-004 Cells for Hemoglobin H-Constant Spring Disease — https://clinicaltrials.gov/study/NCT06107400
- **NCT05799118** [RECRUITING]: Study of the Role of Genetic Modifiers in Hemoglobinopathies — https://clinicaltrials.gov/study/NCT05799118
- **NCT06213402** [RECRUITING]: RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs) — https://clinicaltrials.gov/study/NCT06213402
- **NCT02692872** [ACTIVE_NOT_RECRUITING]: Screening for Alpha Thalassemia in Healthy Volunteers — https://clinicaltrials.gov/study/NCT02692872
- **NCT04770779** [ACTIVE_NOT_RECRUITING]: A Study Evaluating the Efficacy and Safety of Mitapivat in Participants With Transfusion-Dependent Alpha- or Beta-Thalassemia (α- or β-TDT) — https://clinicaltrials.gov/study/NCT04770779
- **NCT04770753** [ACTIVE_NOT_RECRUITING]: A Study Evaluating the Efficacy and Safety of Mitapivat in Participants With Non-Transfusion-Dependent Alpha- or Beta-Thalassemia (α- or β-NTDT) — https://clinicaltrials.gov/study/NCT04770753
- **NCT07517133** [NOT_YET_RECRUITING]: A Study to Investigate the Efficacy, Pharmacokinetics, and Safety of Mitapivat in Pediatric Participants With α- or β-Non-Transfusion-Dependent Thalassemia — https://clinicaltrials.gov/study/NCT07517133

## Doenças relacionadas (por similaridade fenotípica)

- [Beta-talassemia e doenças relacionadas](https://raras.org/doenca/beta-talassemia-e-doencas-relacionadas) — ORPHA:275749 — 17 sintomas em comum
- [Beta-talassemia](https://raras.org/doenca/beta-talassemia) — ORPHA:848 — 15 sintomas em comum
- [Hidropsia fetal](https://raras.org/doenca/hidropsia-fetal) — ORPHA:1041 — 14 sintomas em comum
- [Anemia diseritropoiética congênita](https://raras.org/doenca/anemia-diseritropoietica-congenita) — ORPHA:85 — 13 sintomas em comum
- [Embriofetopatia infecciosa](https://raras.org/doenca/embriofetopatia-infecciosa) — ORPHA:232035 — 13 sintomas em comum
- [Anemia sideroblástica](https://raras.org/doenca/anemia-sideroblastica) — ORPHA:1047 — 12 sintomas em comum
- [Hidropsia fetal não-imune](https://raras.org/doenca/hidropsia-fetal-nao-imune) — ORPHA:363999 — 11 sintomas em comum
- [Hidropsia fetal Hb Bart](https://raras.org/doenca/hidropsia-fetal-hb-bart) — ORPHA:163596 — 11 sintomas em comum
- [Talassemia beta dominante](https://raras.org/doenca/talassemia-beta-dominante) — ORPHA:231226 — 11 sintomas em comum
- [Estomatocitose](https://raras.org/doenca/estomatocitose) — ORPHA:98365 — 11 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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