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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
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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: hedieh.honarpisheh@yale.edu).

Received November 24, 2014

Accepted April 21, 2015

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