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Hb Hezhou [β64(E8)Gly→Ser; HBB: c.193G>A]: A Novel Variant on the β-Globin Gene

Yu-Lan Zhao1, Qing-Fang Lin1, Xiao-Wei He1

  • 1Department of Medical Genetics, Women and Children, Care Hospital of Hezhou, Hezhou, Guangxi, People's Republic of China.

Hemoglobin
|April 12, 2021
PubMed

We report a novel mutation on the β-globin gene, Hb Hezhou [β64(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.

Keywords:
Capillary electrophoresis (CE)Hb Hezhouhigh performance liquid chromatography (HPLC)thalassemiavariant

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