title: 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.
authors.affiliation: Hemoglobinopathy Reference Laboratory, Children's Hospital & Research Center Oakland, 747 52nd Street, Oakland, CA 94609, USA.
authors.forename: Jialing
authors.initials: J
authors.lastname: Cui
authors.forename: Mahin
authors.initials: M
authors.lastname: Azimi
authors.forename: Adekunle D
authors.initials: AD
authors.lastname: Adekile
authors.forename: Hanan
authors.initials: H
authors.lastname: Al Awadhi
authors.forename: Carolyn C
authors.initials: CC
authors.lastname: Hoppe
mesh_terms: D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D015342:DNA Probes; D005260:Female; D050939:Gene Fusion; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008969:Molecular Sequence Data; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D012689:Sequence Homology, Nucleic Acid; D055544:beta-Globins / Q000235:genetics* / Q000378:metabolism; D055546:delta-Globins / Q000235:genetics* / Q000378:metabolism
chemical_list: D015342:DNA Probes; D006455:Hemoglobins, Abnormal; D055544:beta-Globins; D055546:delta-Globins; C049659:hemoglobin P-Nilotic; C037659:hemoglobin Lepore