Detection of a Novel βδ-Globin Fusion Gene, Anti-Lepore Hb CHORI (βthrough IVS-I-57/δfrom IVS-I-101), by Multiplex Ligation-Dependent Probe Amplification

Anti-Lepore hemoglobins (Hbs) are rare βδ fusion variants that arise from non homologous crossover during meiosis. Using multiplex ligation-dependent probe amplification (MLPA), we identified a novel anti-Lepore Hb in an individual with an ambiguous Hb variant detected on routine screening by electrophoresis and high performance liquid chromatography (HPLC). The results of MLPA revealed duplication of β and δ gene segments. Resolution of the rearrangement by DNA sequencing confirmed a novel anti-Lepore Hb, molecularly distinct from Hb P-Nilotic, which we have named anti-Lepore Hb CHORI (Children's Hospital Oakland Research Institute) (β(through IVS-I-57)/δ(from IVS-I-101)).