Last reviewed: November 2017
Last updated: May  2017

Summary

Definition

History and exam

Key diagnostic factors

  • symptoms of anemia
  • splenomegaly

Other diagnostic factors

  • childhood or young adulthood
  • FHx 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
Full details

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
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Director

Thalassemia Program

Children’s Hospital of Philadelphia

Associate Professor of Pediatrics

Perelman School of Medicine

University of Pennsylvania

Philadelphia

PA

Disclosures

JLK has consulted for Shire Pharmaceuticals, Sideris Pharmaceuticals, and Isis Pharmaceuticals.

Dr Janet L. Kwiatkowski would like to gratefully acknowledge Dr Elizabeth A. Price and Dr Stanley L. Schrier, the previous contributors to this monograph. 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 monograph.

Peer reviewers VIEW ALL

Professor of Medicine

Boston University School of Medicine

Boston

MA

Disclosures

DHKC is an author of a number of references cited in this monograph. 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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