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
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
Contributors
Authors
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
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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