Hb Alessandria [β37(C3)Trp→Leu; HBB: c.113G>T]: a Novel Variant on the β-Globin Chain with Slightly Increased Affinity for Oxygen Detected by Capillary Electrophoresis
Sign Up to like & getrecommendations! Published in 2022 at "Hemoglobin"
DOI: 10.1080/03630269.2022.2118605
Abstract: Abstract We report a novel mutation on the β-globin gene in a 68-year-old woman of Sicilian origin living in Alessandria, Italy. This mutation produces a hemoglobin (Hb) variant of Hb A that was detected by… read more here.
Keywords: leu hbb; trp leu; hbb 113g; alessandria trp ... See more keywords
Fist Detection of Hb Suqian[β42(CD1) Phe→Leu, HBB:c.129T > A] in Han Chinese
Sign Up to like & getrecommendations! Published in 2023 at "Hemoglobin"
DOI: 10.1080/03630269.2023.2167658
Abstract: Abstract We have identified a variant on the β-globin gene in a Chinese female. Sequencing of the HBB gene revealed a Phe→Leu substitution at codon 42[β42(CD1) Phe→Leu, HBB:c.129T > A] which has been named Hb Suqian for… read more here.
Keywords: hbb 129t; leu hbb; cd1 phe; phe leu ... See more keywords