Practical guide to the diagnosis of thalassemia

Kenneth W. Dumars, Corinne Boehm, James R. Eckman, Patricia J. Giardina, Peter A. Lane, Frank E. Shafer

Research output: Contribution to journalArticlepeer-review


Thalassemias occur in individuals of all ethnic backgrounds and are among the most common genetic diseases worldwide. The diagnosis of thalassemia can easily be part of primary medical practice. Here we outline a practical approach to the detection of thalassemias in three common clinical settings. The first involves any patient with a low mean corpuscular volume (MCV) with or without anemia. The second is a neonatal screening result indicating possible presence of thalassemia. Finally, evaluation for thalassemia should be considered in the context of family planning or pregnancy in patients whose ethnicity indicates origin from high risk geographic areas. We also review the various types of the thalassemia syndromes and provide an overview of general therapeutic considerations.

Original languageEnglish (US)
Pages (from-to)29-37
Number of pages9
JournalAmerican journal of medical genetics
Issue number1
StatePublished - Mar 1 1996


  • anemia
  • microcytosis hemoglobinopathy
  • neonatal screening
  • prenatal diagnosis
  • thalassemia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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