• Yuanyuan Pei, Jian Ran, and Fengxiang Wei.
• Central Laboratory, Longgang District Maternity & Child Healthcare Hospital of Shenzhen City, Shenzhen, Guangdong, China.
• Medicine (Baltimore). 2022 Nov 18; 101 (46): e31902e31902.

RationaleMore than 1300 mutations which lead to abnormal hemoglobin (Hb) have been recorded in the HbVar database. Hb Ty Gard has rarely been reported and has not been reported in China.Patient Concerns And DiagnosesA 2-year-old Chinese girl was healthy with normal physical development and hematological parameters. Capillary electrophoresis suggested that Hb F increased slightly, while Hb A2 levels were normal. Flow cytometry, fluorescence hybridization, and Sanger sequencing were used to characterize the genotypes. Sanger sequencing detected a heterozygous mutation at codon 124 of the β-globin gene (HBB: c.374 C > A), which was previously reported as Hb Ty Gard in the HbVar database.OutcomesWe report the first case of HbTy Gard in a Chinese population. In areas with a high incidence of Hb diseases, sensitive detection of Hb components and accurate diagnosis of Hb variation are very important, and the combined application of capillary electrophoresis and gene sequencing can diagnose more Hb variants.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

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