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

• Main Authors: Yao Gong (Author), Qinxin Zheng (Author), Sili Long (Author), Hongying Chen (Author), Wenjun Liu (Author), Cheng Li (Author)
• Format: Book
• Published: BMC, 2023-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...