Detection of Anti-Lepore Hb P-Nilotic by Multiplex Ligation-Dependent Probe Amplification

Abstract

Anti-Lepore hemoglobins (Hbs) are rare βδ fusion variants that arise from non homologous crossover during meiosis. We describe the application of multiplex ligation-dependent probe amplification (MLPA) to test for a suspected 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 consistent with an anti-Lepore βδ fusion gene. Resolution of the hybrid gene by DNA sequencing identified the variant as Hb P-Nilotic (β31-δ50) HBB/HBD hybrid; HBB through 22; HBD from 50 (NG_000007.3:g.63290_70702dup). Multiples ligation-dependent probe amplification allows for rapid detection of hybrid globin variants caused by duplications in the β-globin gene locus.

• Multiplex ligation-dependent probe amplification (MLPA)
• Anti-Lepore
• Hemoglobin (Hb)