Last reviewed: November 2017
Last updated: November  2017

Summary

Definition

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

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

Investigations to consider

  • genetic testing
  • HLA typing
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Professor of Clinical Pediatrics

Weill-Cornell Medical College

New York

NY

Disclosures

SS is a consultant for Novartis Pharmaceuticals, makers of Desferal (deferoxamine), Exjade (deferasirox) and Jadenu (deferasirox); for Apopharma, maker of Ferriprox (deferiprone); and for Celgene, which is conducting trials with Luspatercept. SS is also an author of references cited in this monograph.

Peer reviewers VIEW ALL

Associate Professor of Medicine

Innsbruck Medical University

Innsbruck

Austria

Disclosures

CP declares that he has no competing interests.

Associate Professor

Pediatric Hematology & Oncology

Stanford University School of Medicine

Palo Alto

CA

Disclosures

MRJ declares that he has no competing interests.

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