Beta-thalassaemia

Last reviewed: 25 Aug 2022
Last updated: 30 Mar 2021

Summary

Definition

History and exam

Key diagnostic factors

  • country of origin or ancestry
  • family history
  • asymptomatic
More key diagnostic factors

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
Other diagnostic factors

Risk factors

  • positive family history
More risk factors

Diagnostic investigations

1st investigations to order

  • FBC
  • peripheral smear
  • reticulocyte count
  • haemoglobin analysis
  • LFTs
  • plain x-rays of skull
  • abdominal ultrasonography
  • plain x-rays of long bones
More 1st investigations to order

Investigations to consider

  • genetic testing
  • HLA typing
More investigations to consider

Treatment algorithm

ONGOING

beta-thalassaemia trait

beta-thalassaemia intermedia: non-transfusion-dependent

beta-thalassaemia intermedia: transfusion-dependent

beta-thalassaemia 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-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.

  • Differentials

    • Congenital dyserythropoietic anaemia (CDA)
    • Pyruvate kinase (PK) deficiency
    • Mild iron deficiency anaemia
    More Differentials
  • Guidelines

    • A short guide for the management of transfusion dependent thalassaemia
    • Guidelines for the management of non transfusion dependent thalassaemia, 2nd edition
    More Guidelines
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