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

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.

• Hemoglobinopathies
• Hb Perth
• hemolytic anemia
• unstable hemoglobin (Hb)

Declaration of interest

This study was supported by a grant from the National Natural Science Foundation (81571448), People’s Republic of China. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.