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Talassemia beta

  • Visão geral
  • Teoria
  • Diagnóstico
  • Tratamento
  • ACOMPANHAMENTO
  • Recursos
Last reviewed: 12 Jul 2025
Last updated: 06 Dec 2023

Summary

Definition

History and exam

Key diagnostic factors

  • país de origem ou ascendência
  • história familiar
  • assintomático
Full details

Other diagnostic factors

  • letargia
  • distensão abdominal
  • falha no ganho de peso
  • altura e peso baixos
  • palidez
  • alterações espinhais
  • cabeça grande
  • fácies de esquilo
  • dentes desalinhados
  • hepatoesplenomegalia
  • icterícia
Full details

Risk factors

  • história familiar positiva
Full details

Diagnostic investigations

1st investigations to order

  • Hemograma completo
  • esfregaço de sangue periférico
  • contagem de reticulócitos
  • análise de hemoglobina
  • TFHs
  • radiografias simples do crânio
  • ultrassonografia abdominal
  • radiografia simples de ossos longos
Full details

Investigations to consider

  • teste genético
  • tipagem HLA (antígeno leucocitário humano)
Full details

Treatment algorithm

ONGOING

traço talassêmico beta

talassemia beta intermédia: não dependente de transfusão

talassemia beta intermédia: dependentes de transfusão

talassemia beta maior

Contributors

Authors

Sujit Sheth, MD

Professor of Clinical Pediatrics

Weill-Cornell Medical College

New York

NY

Disclosures

SS is a consultant for Bristol Myers Squibb (formerly Celgene), manufacturer of luspatercept; for Bluebirdbio, developer of a gene therapy product for transfusion dependent beta-thalassaemia; and for Agios, related to mitapivat for thalassaemia. Steering committee member for CTX001, gene editing product by CRISPR/Vertex. Participation in multicentre trials conducted by LaJolla, Bristol Myers Squibb, Terumo, Novartis, Dispersol. SS is also an author of references cited in this topic.

Peer reviewers

Christoph Pechlaner, MD

Associate Professor of Medicine

Innsbruck Medical University

Innsbruck

Austria

Disclosures

CP declares that he has no competing interests.

Michael R. Jeng, MD

Associate Professor

Pediatric Hematology & Oncology

Stanford University School of Medicine

Palo Alto

CA

Disclosures

MRJ declares that he has no competing interests.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

Bain BJ, Daniel Y, Henthorn J, et al. Significant haemoglobinopathies: A guideline for screening and diagnosis: A British Society for Haematology guideline. Br J Haematol. 2023 Jun;201(6):1047-65.Full text  Abstract

Farmakis D, Angastiniotis M, Eleftheriou, A. A short guide for the management of transfusion dependent thalassaemia. 2017 [internet publication].Full text

Sharma A, Easow Mathew M, Puri L. Splenectomy for people with thalassaemia major or intermedia. Cochrane Database Syst Rev. 2019 Sep 17;9:CD010517.Full text  Abstract

Taher A, Musallam K, Cappellini MD. Guidelines for the management of non transfusion dependent thalassaemia (NTDT) 2nd Edition. 2017 [internet publication].Full text

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

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