Last reviewed: 29 Oct 2021
Last updated: 30 Mar 2021



History and exam

Key diagnostic factors

  • country of origin or ancestry
  • family history
  • asymptomatic

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

Risk factors

  • positive family history

Diagnostic investigations

1st investigations to order

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

Treatment algorithm



Sujit Sheth, MD

Professor of Clinical Pediatrics

Weill-Cornell Medical College

New York



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




CP declares that he has no competing interests.

Michael R. Jeng, MD

Associate Professor

Pediatric Hematology & Oncology

Stanford University School of Medicine

Palo Alto



MRJ declares that he has no competing interests.

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