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

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.