Last reviewed: 4 Jul 2021
Last updated: 08 Aug 2019

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

Risk factors

  • ethnicity from a geographic malarial area
  • positive family history

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

Janet L. Kwiatkowski, MD, MSCE

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.

Acknowledgements

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

David H. K. Chui, MD, FRCPC

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.

Piero Giordano, PhD

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.

Cornelis Harteveld, PhD

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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