The Role of Advanced Genetic Analyses to Determine a Complex Hemoglobinopathy

We describe a two-year-oldwith mild anemia and marked microcytosis of unclear etiology. Hematologic evaluation suggests an apparent HbCC disease or HbCβ0 thalassemia. Parental testing and routine genetic analysis could not provide a definitive diagnosis. Advanced genetic analyses with SOMA and qPCR were required to uncover a large de novo deletion of the beta globin locus revealing HbCεγδβ0 thalassemia. This case exemplifies the importance of advanced genetic technology in hemoglobinopathies that are inconsistent with routine molecular and laboratory testing. Accurate molecular analyses are necessary to facilitate precise determination of genotype-phenotype correlations and, in some cases, are critical to documenting de novo variants.