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Hemoglobinopathy Screening in a 15-Year-old Patient With Anemia

Honarpisheh, Helen MD*,†; Staba Hogan, Mary-Jane MD; Rinder, Henry M. MD*; Siddon, Alexa J. MD*,†,§

Journal of Pediatric Hematology/Oncology: August 2015 - Volume 37 - Issue 6 - p 472–473
doi: 10.1097/MPH.0000000000000357
Clinical and Laboratory Observations

Identification of hemoglobinopathies in pediatric patients can be challenging and has important implications for the patient, as well as family members. Laboratory identification of uncommon hemoglobin (Hb) variants can pose a significant problem. Although many Hb variants can be largely identified using conventional electrophoresis and HPLC, confirmatory Hb DNA analysis may be necessary. This report provides an example of a pediatric patient with a complex heterozygous Hb by electrophoresis and HPLC, which necessitated identification by DNA analysis. Clinical and laboratory scenarios warranting Hb DNA analysis are additionally discussed.

Departments of *Pathology

Laboratory Medicine

Pediatrics, Yale School of Medicine, New Haven

§VA Connecticut Healthcare, West Haven, CT

The authors declare no conflict of interest.

Reprints: Helen Honarpisheh, MD, Department of Laboratory Medicine, Yale School of Medicine, 333 Cedar St, New Haven, CT 06520-8035 (e-mail:

Received November 24, 2014

Accepted April 21, 2015

Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved.