A Kindred with a p-Globin Base Substitution [(389(F5)Ser->Arg (AG7>AGG); HBB: c.270T>G] Resulting in Hemoglobin Vanderbilt

摘要

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 p-globin gene at codon 89 (AG7>AGG) in a kindred with familial erythrocytosis resulting in Hb Vanderbilt, a high oxygen affinity variant.