# Talassemia beta major

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

## Identificadores

- **ORPHA**: 231214 — https://www.orpha.net/en/disease/detail/231214
- **CID-10**: D56.1
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A beta-talassemia (BT) major é uma forma de BT de início precoce grave (ver este termo) caracterizada por anemia grave, necessitando de transfusões regulares de glóbulos vermelhos.

## Epidemiologia e herança

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

## Sinais e sintomas (50 fenótipos HPO)

- **Arritmia** — HPO: HP:0011675 (Raro (<5%))
- **Hipoplasia da musculatura** — HPO: HP:0009004 (Frequente (79-30%))
- **Hipotireoidismo** — HPO: HP:0000821 (Ocasional (29-5%))
- **Volume corpuscular médio diminuído** — HPO: HP:0025066 (Muito frequente (99-80%))
- **Anormalidade da dentição** — HPO: HP:0000164 (Frequente (79-30%))
- **Úlcera cutânea** — HPO: HP:0200042 (Ocasional (29-5%))
- **Artralgia** — HPO: HP:0002829 (Ocasional (29-5%))
- **Cardiomiopatia dilatada** — HPO: HP:0001644 (Ocasional (29-5%))
- **Insuficiência adrenal** — HPO: HP:0000846 (Raro (<5%))
- **Puberdade atrasada** — HPO: HP:0000823 (Ocasional (29-5%))
- **Hepatoesplenomegalia** — HPO: HP:0001433 (Ocasional (29-5%))
- **Diarreia** — HPO: HP:0002014 (Ocasional (29-5%))
- **Encurvamento dos ossos longos** — HPO: HP:0006487 (Frequente (79-30%))
- **Persistência de hemoglobina F** — HPO: HP:0011904 (Muito frequente (99-80%))
- **Anemia por produção inadequada** — HPO: HP:0010972 (Muito frequente (99-80%))
- **Bossas frontais** — HPO: HP:0002007 (Ocasional (29-5%))
- **Hiperpigmentação da pele** — HPO: HP:0000953 (Frequente (79-30%))
- **Insuficiência cardíaca congestiva de alto débito** — HPO: HP:0001722 (Ocasional (29-5%))
- **Fibrose hepática** — HPO: HP:0001395 (Ocasional (29-5%))
- **Anisopoiquilocitose** — HPO: HP:0004823 (Muito frequente (99-80%))
- **Genu valgum** — HPO: HP:0002857 (Frequente (79-30%))
- **Icterícia** — HPO: HP:0000952 (Ocasional (29-5%))
- **Ponte nasal deprimida** — HPO: HP:0005280 (Ocasional (29-5%))
- **Anemia microcítica hipocrômica** — HPO: HP:0004840 (Muito frequente (99-80%))
- **Hematopoiese extramedular** — HPO: HP:0001978 (Frequente (79-30%))
- **Hipopituitarismo** — HPO: HP:0040075 (Ocasional (29-5%))
- **Diabetes mellitus** — HPO: HP:0000819 (Ocasional (29-5%))
- **Trombose venosa** — HPO: HP:0004936 (Ocasional (29-5%))
- **Anormalidade da morfologia esquelética** — HPO: HP:0011842 (Frequente (79-30%))
- **Hiperplasia da maxila** — HPO: HP:0430028 (Ocasional (29-5%))
- **Carcinoma hepatocelular** — HPO: HP:0001402 (Raro (<5%))
- **Déficit de crescimento na infância** — HPO: HP:0001531 (Frequente (79-30%))
- **Proeminência malar** — HPO: HP:0010620 (Ocasional (29-5%))
- **Irritabilidade** — HPO: HP:0000737 (Ocasional (29-5%))
- **Hemoglobina A reduzida** — HPO: HP:0011905 (Muito frequente (99-80%))
- **Atraso de crescimento** — HPO: HP:0001510 (Frequente (79-30%))
- **Hiperesplenismo** — HPO: HP:0001971 (Frequente (79-30%))
- **Hepatomegalia** — HPO: HP:0002240 (Frequente (79-30%))
- **Fissura palpebral ascendente** — HPO: HP:0000582 (Ocasional (29-5%))
- **Dificuldades alimentares** — HPO: HP:0011968 (Frequente (79-30%))
- _...e mais 10 sintomas. Ver https://raras.org/doenca/talassemia-beta-major._

## Genes associados (1)

- **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

## Medicamentos em desenvolvimento (5)

- AZACITIDINE — Fase Phase 2 (DNA (cytosine-5)-methyltransferase 3A inhibitor)
- AMLODIPINE — Fase Phase 2 (Voltage-gated L-type calcium channel blocker)
- RUXOLITINIB — Fase Phase 2 (Tyrosine-protein kinase JAK1 inhibitor)
- SOTATERCEPT — Fase Phase 2 (Inhibin beta A chain inhibitor)
- BETIBEGLOGENE AUTOTEMCEL — Fase Phase 1 (Hemoglobin beta chain exogenous gene)
- Fonte: https://platform.opentargets.org/disease/MONDO_0016486

## Ensaios clínicos ativos (31)

- **NCT03937817** [RECRUITING]: Collection of Human Biospecimens for Basic and Clinical Research Into Globin Variants — https://clinicaltrials.gov/study/NCT03937817
- **NCT06364774** [RECRUITING]: ALS20-101 Lentiviral Gene Therapy for Beta Thalassemia — https://clinicaltrials.gov/study/NCT06364774
- **NCT05736419** [RECRUITING]: A Study of Immune Suppression Treatment for People With Sickle Cell Disease or β-Thalassemia Who Are Going to Receive an Allogeneic Hematopoietic Cell Transplantation (HCT) — https://clinicaltrials.gov/study/NCT05736419
- **NCT05477563** [RECRUITING]: Evaluation of Efficacy and Safety of a Single Dose of CTX001 in Participants With Transfusion-Dependent β-Thalassemia and Severe Sickle Cell Disease — https://clinicaltrials.gov/study/NCT05477563
- **NCT06421636** [RECRUITING]: A Study to Test the Safety, Tolerability, and Efficacy of an Antibody, REGN7999, Injected Under the Skin for the Treatment of Iron Overload in Adult Participants With Non-Transfusion Dependent β-thalassemia, Using MRI Scans to Measure Iron Levels in the Body — https://clinicaltrials.gov/study/NCT06421636
- **NCT05508932** [RECRUITING]: Atrial Fibrillation in Beta-Thalassemia — https://clinicaltrials.gov/study/NCT05508932
- **NCT07215975** [RECRUITING]: A Real-World Study to Evaluate Luspatercept in Adults With Transfusion-Dependent Beta-Thalassemia in the Middle East — https://clinicaltrials.gov/study/NCT07215975
- **NCT06931912** [RECRUITING]: Growth Evaluation, Health Promotion, and Clinical Management in Children and Adolescents With Thalassemia — https://clinicaltrials.gov/study/NCT06931912
- **NCT05904093** [RECRUITING]: Study to Evaluate the Safety and Tolerability of Escalating Doses of Fostamatinib in Subjects With Stable Sickle Cell Disease — https://clinicaltrials.gov/study/NCT05904093
- **NCT06647979** [RECRUITING]: Hematopoietic Stem Cell BCL11A Enhancer Gene Editing for Severe β-Hemoglobinopathies — https://clinicaltrials.gov/study/NCT06647979

## Doenças relacionadas (por similaridade fenotípica)

- [Beta-talassemia e doenças relacionadas](https://raras.org/doenca/beta-talassemia-e-doencas-relacionadas) — ORPHA:275749 — 50 sintomas em comum
- [Beta-talassemia](https://raras.org/doenca/beta-talassemia) — ORPHA:848 — 50 sintomas em comum
- [Talassemia beta dominante](https://raras.org/doenca/talassemia-beta-dominante) — ORPHA:231226 — 48 sintomas em comum
- [Anemia sideroblástica](https://raras.org/doenca/anemia-sideroblastica) — ORPHA:1047 — 19 sintomas em comum
- [Talassemia beta intermédia](https://raras.org/doenca/talassemia-beta-intermedia) — ORPHA:231222 — 19 sintomas em comum
- [Anemia sideroblástica genética](https://raras.org/doenca/anemia-sideroblastica-genetica) — ORPHA:98362 — 18 sintomas em comum
- [Alteração do metabolismo e transporte de ferro](https://raras.org/doenca/alteracao-do-metabolismo-e-transporte-de-ferro) — ORPHA:309842 — 16 sintomas em comum
- [Anemia diseritropoiética congênita](https://raras.org/doenca/anemia-diseritropoietica-congenita) — ORPHA:85 — 14 sintomas em comum
- [Disqueratose congênita](https://raras.org/doenca/disqueratose-congenita) — ORPHA:1775 — 13 sintomas em comum
- [Necrose avascular](https://raras.org/doenca/necrose-avascular) — ORPHA:399164 — 13 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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