Diagnostic Dilemma of Hb Perth [β32(B14)Leu→Pro; HBB: c.98T > C] in Mainland China
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Updated: Mar 22, 2026

Evaluation of a Point-of-Care Testing Analyzer for Measuring Peripheral Blood Leukocytes
Published on: March 22, 2022
Hua Jiang1, Jin-Mei Yan2, Jian Li2
1a Department of Hematology/Oncology , Guangzhou Women & Children Medical Center Affiliated to Guangzhou Medical University , Guangzhou , People's Republic of China and.
Abstract:
Unstable hemoglobin (Hb) variants represent a rare etiology of congenital hemolytic anemia. Correct diagnosis can be a challenge due to the relative rarity or lack of awareness of this disorder. We report an 18-month-old girl, who presented with a long-standing hemolytic anemia. Her diagnosis of unstable Hb Perth [β32(B14)Leu→Pro, HBB: c.98T > C] had not been made until gene sequencing of the β-globin gene was performed.
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