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Beta-thalassemia

  • Overview
  • Theory
  • Diagnosis
  • Management
  • Follow up
  • Resources
Last reviewed: 5 Aug 2025
Last updated: 11 Dec 2024

Summary

Definition

History and exam

Key diagnostic factors

  • country of origin or ancestry
  • family history
  • asymptomatic
Full details

Other diagnostic factors

  • lethargy
  • abdominal distension
  • failure to gain weight
  • low height and weight
  • pallor
  • spinal changes
  • large head
  • chipmunk facies
  • misaligned teeth
  • hepatosplenomegaly
  • jaundice
Full details

Risk factors

  • positive family history
Full details

Diagnostic tests

1st tests to order

  • CBC
  • peripheral smear
  • reticulocyte count
  • hemoglobin analysis
  • LFTs
  • plain x-rays of skull
  • abdominal ultrasonography
  • plain x-rays of long bones
Full details

Tests to consider

  • genetic testing
  • HLA typing
Full details

Treatment algorithm

ONGOING

beta-thalassemia trait

beta-thalassemia intermedia: non-transfusion-dependent

beta-thalassemia intermedia: transfusion-dependent

beta-thalassemia major

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-thalassemia; and for Agios, related to mitapivat for thalassemia. Steering committee member for CTX001, gene editing product by CRISPR/Vertex. Participation in multicenter 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.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

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

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

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

Karimi M, Cohan N, De Sanctis V, et al. Guidelines for diagnosis and management of beta-thalassemia intermedia. Pediatr Hematol Oncol. 2014 Oct;31(7):583-96. Abstract

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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