Hb Treviso [α91(FG3)Leu→Phe (α2)]: A New Slightly Unstable Hemoglobin Variant with Moderately Decreased Oxygen Affinity

Abstract

We report a new hemoglobin (Hb) variant, found in a North-East Italian family living in the city of Treviso. The proband, a non anemic 60-year-old male with a history of chronic rhinitis, allergy to Parietaria and suspected obstructive sleep apnea syndrome, was referred for blood gas analysis. Determination of the oxygen affinity revealed a p50 of 32.5 mmHg (control 27.5 mmHg) indicating a moderate decrease in oxygen affinity. An abnormal pattern compatible with an α Hb variant was observed on high performance liquid chromatography (HPLC); direct sequencing revealed a transition at codon 91 of the α2 gene (HBA2: c.274C>T) changing leucine into phenylalanine. Characterization and phenotype studies are reported.

• α Chain
• Abnormal hemoglobin (Hb)
• Unstable Hbs
• Oxygen (O₂) Hb affinity

ACKNOWLEDGMENTS

All patients gave explicit permission for this study which was conducted according to the local medical ethical regulations.

Declaration of Interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.