First Report of HB Long Island-Marseille in Australia - A Chance Discovery

Identification and Genomic Analysis of Hemoglobin Long Island-Marseille in a Nondiabetic Subject of Italian Origin

“…Only three carriers of this hemoglobin variant have been identified so far; none of them of Italian origin [3][4][5]. In the previous studies, the hemoglobin defect had been detected through amino acid analysis of the (I-chain, while the genomic alteration was also revealed by the sequenc ing of the reverse transcribed reticulocyte p-globin mRNA in only one of them [6], In the present study, we have con firmed this molecular defect through the direct examina tion of the p-globin gene.…”