Hb Treviso [α91(FG3)Leu→Phe (α2)]: a new slightly unstable hemoglobin variant with moderately decreased oxygen affinity.
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.
Medicina di Laboratorio, Ospedale di Treviso, Azienda ULSS N9, Treviso, Italia.
Giuseppina
G
Barberio
Daniela
D
Leone
Giovanni
G
Ivaldi
Piero C
PC
Giordano
D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D006443:Hemoglobin A2 / Q000235:genetics* / Q000378:metabolism; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010100:Oxygen / Q000378:metabolism
D006455:Hemoglobins, Abnormal; C583214:hemoglobin Treviso; D006443:Hemoglobin A2; D010100:Oxygen