Pediatric case of hemoglobin I-high Wycombe variant

Over 1400 variants of hemoglobin (Hb) have been identified and characterized with phenotypes ranging from clinically silent to severe clinical manifestations in carriers. Different analytical methods have been established to detect Hb variants. Here, we report the first pediatric case of hemoglobin I-High Wycombe [β59(E3) Lys → Glu] variant found in an infant of Mexican-American descent. The patient is thriving and has no clinical complication due to this hemoglobinopathy. In this case, globin chain analysis and peptide mapping by reversed phase high-performance liquid chromatography revealed the presence of hemoglobin I-High Wycombe which can easily be reported incorrectly as beta thalassemia trait.