The first Chinese with Hb Chile leading to chronic anemia and methemoglobinemia: a case report

Abstract Background Hemoglobin (Hb) Chile [β28(B10) Leu > Met; HBB: c.85 C > A] is a rare hemoglobin variant caused by a missense mutation in the HBB gene. Only one case of Hb Chile has been reported worldwide so far. It is an unstable hemoglobin, characterized by cyanosis associated with chro...

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Bibliographic Details
Main Authors: Yao Gong, Qinxin Zheng, Sili Long, Hongying Chen, Wenjun Liu, Cheng Li
Format: Article
Language:English
Published: BMC 2023-12-01
Series:BMC Pediatrics
Subjects:
Online Access:https://doi.org/10.1186/s12887-023-04462-8