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A Kindred with a ß-Globin Base Substitution [ß89(F5)Ser?Arg (AGT>AGG); HBB: c.270T>G] Resulting in Hemoglobin Vanderbilt. Hemoglobin Shomali, W. n., Brar, R. n., Arekapudi, S. R., Gotlib, J. R. 2019: 1–4
Abstract
High oxygen affinity hemoglobins (Hbs), characterized by a decreased ability to release oxygen to the tissues and a left-shifted oxygen dissociation curve, are a rare cause of secondary erythrocytosis. Here, we report a base substitution in the ß-globin gene at codon 89 (AGT>AGG) in a kindred with familial erythrocytosis resulting in Hb Vanderbilt, a high oxygen affinity variant.
View details for DOI 10.1080/03630269.2019.1680382
View details for PubMedID 31657650