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Characterization of a new hemoglobin variant: Hb Badalona (β31[B13]Leu→Val)

Abstract.

Hemoglobin (Hb) Badalona was identified in a 35-year-old Spanish female and two other family members. All affected subjects presented erythrocytosis and increased oxygen affinity (P50: 21 mmHg). Hemoglobinopathy was not detected with electrophoretic methods. It was, however, separated and quantified by cation exchange and reverse-phase high-performance liquid chromatography. Hb Badalona accounted for 35% of the total Hb. No significant clinical symptoms were found to be related to this hemoglobinopathy. This is the first case of a Leu→Val replacement at position β31(B13) reported in the world literature.

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Junca, .J., Villegas, .A., Ropero, .P. et al. Characterization of a new hemoglobin variant: Hb Badalona (β31[B13]Leu→Val). Ann Hematol 81, 179–181 (2002). https://doi.org/10.1007/s00277-002-0447-6

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  • DOI: https://doi.org/10.1007/s00277-002-0447-6

  • β chain variant Cation exchange high-performance liquid chromatography Erythrocytosis Hb Badalona High oxygen affinity Leu→Val substitution Reverse-phase high-performance liquid chromatography Sequencing