Hb Treviso [α91(FG3)Leu→Phe (α2)]: A New Slightly Unstable Hemoglobin Variant with Moderately Decreased Oxygen Affinity. (April 2013)

• Record Type: Journal Article
• Authors: Barberio, Giuseppina; Leone, Daniela; Ivaldi, Giovanni; Giordano, Piero C.
• Is Part Of: Hemoglobin. Volume 37:Number 2(2013)
• Page Start: 107
• Page End: 111
• Publication Date: 2013-04
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.3109/03630269.2012.759961
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <p>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 <italic>Parietaria</italic> 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 (<italic>HBA2</italic>: c.274C&gt;T) changing leucine into phenylalanine. Characterization and phenotype studies are reported.</p> </abstract>