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Talasemia beta

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  • Visão geral
  • Teoria
  • Diagnóstico
  • Tratamento
  • ACOMPANHAMENTO
  • Recursos
Última revisão: 23 Jul 2025
Última atualização: 06 Dec 2023

Resumo

Definição

History and exam

Key diagnostic factors

  • país de origen o linaje
  • antecedentes familiares
  • asintomático
Full details

Other diagnostic factors

  • letargo
  • distensión abdominal
  • incapacidad para aumentar de peso
  • estatura y peso bajo
  • palidez
  • cambios en la columna vertebral
  • cabeza grande
  • facies de ardilla
  • dientes mal alineados
  • hepatoesplenomegalia
  • ictericia
Full details

Risk factors

  • antecedentes familiares positivos
Full details

Diagnostic investigations

1st investigations to order

  • hemograma completo (HC)
  • frotis de sangre periférica
  • recuento de reticulocitos
  • análisis de hemoglobina
  • pruebas de función hepática (PFH)
  • radiografías simples del cráneo
  • ecografía abdominal
  • radiografías simples de huesos largos
Full details

Investigations to consider

  • pruebas genéticas
  • tipificación del antígeno leucocitario humano (ALH)
Full details

Treatment algorithm

ONGOING

rasgo de talasemia beta

talasemia beta intermedia: no dependiente de transfusiones

talasemia beta intermedia: dependiente de transfusiones

talasemia beta mayor

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.

  • Differentials

    • Anemia diseritropoyética congénita (ADC)
    • Deficiencia de piruvato cinasa (PC)
    • Anemia ferropénica leve
    More Differentials

  • Guidelines

    • Significant haemoglobinopathies: a guideline for screening and diagnosis
    • Carrier screening for genetic conditions
    More Guidelines
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