Hb Hezhou [ß64(E8)Gly→Ser; HBB: c.193G>A]: A Novel Variant on the ß-Globin Gene.

ABSTRACT

We report a novel mutation on the ß-globin gene, Hb Hezhou [ß64(E8)Gly→Ser; HBB c.193G>A] that was detected in two unrelated Chinese individuals. Patient 1 also carried an α+-thalassemia (α+-thal) -α4.2 (leftward) deletion, but hematological analyses showed no clinical consequences. Patient 2 was heterozygous for Hb Hezhou. Hemoglobin (Hb) analysis was performed using capillary electrophoresis (CE) and high performance liquid chromatography (HPLC). The Hb variant remained undetected using HPLC, while an additional peak was detected by CE. The finding of Hb Hezhou indicates that the possibilities of rare Hb variants should be alerted in the thalassemia screening program and precisely diagnosed depending on the Hb separation technique used.