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Detection of a novel βδ-globin fusion gene, anti-lepore Hb CHORI (β(through IVS-I-57)/δ(from IVS-I-101)), by multiplex ligation-dependent probe amplification.

Research paper by Jialing J Cui, Mahin M Azimi, Carolyn C CC Hoppe

Indexed on: 10 Oct '13Published on: 10 Oct '13Published in: Hemoglobin



Abstract

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)).