Summary
Definition
History and exam
Other diagnostic factors
- childhood or young adulthood
- family history of alpha-thalassemia
- symptoms of gallstones
- growth retardation
- history of prior iron supplementation
- jaundice
- mild dysmorphic facial features
- extramedullary hematopoiesis
Diagnostic investigations
1st investigations to order
- hemoglobin (Hb)
- mean corpuscular volume (MCV)
- mean corpuscular hemoglobin (MCH)
- RBC count
- peripheral smear
- reticulocyte percentage
- serum iron
- serum ferritin
Investigations to consider
- brilliant cresyl blue staining of red blood cells
- hemoglobin electrophoresis
- Hb fractionation by high-performance liquid chromatography (HPLC)
- gap-PCR
- multiplex ligation-dependent probe amplification (MLPA)
- direct sequencing
- MRI (hepatic or cardiac)
- superconducting quantum interference devices (SQUID)
- liver biopsy
Treatment algorithm
Contributors
Authors
Director
Thalassemia Program
Children’s Hospital of Philadelphia
Professor of Pediatrics
Perelman School of Medicine
University of Pennsylvania
Philadelphia
PA
Disclosures
JLK has participated in research trials of iron chelation sponsored by Novartis and ApoPharma, and has consulted for Ionis Pharmaceuticals, bluebird bio, Agios, and Celgene.
Dr Janet L. Kwiatkowski would like to gratefully acknowledge Dr Elizabeth A. Price and Dr Stanley L. Schrier, the previous contributors to this topic.
Disclosures
EAP declares that she has no competing interests. SLS has received NIH research funds, has received funds for organizing an educational symposium, and is an author of a number of references cited in this topic.
Peer reviewers
Professor of Medicine
Boston University School of Medicine
Boston
MA
Disclosures
DHKC is an author of a number of references cited in this topic. He has received research grants or salary from the US National Institutes of Health greater than 6 figures USD.
Professor of Clinical Biochemical Molecular Genetics
Human and Clinical Genetics Department
Leiden University Medical Center
Leiden
The Netherlands
Disclosures
PG declares that he has no competing interests.
Clinical Molecular and Biochemical Geneticist
Department of Clinical Genetics
Leiden University Medical Center
Leiden
The Netherlands
Disclosures
CH declares that he has no competing interests.
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