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<p>We reported the first Chinese case of Hb M Saskatoon in a 50-year-old female patient, with the primary manifestation of low oxygen saturation (O2Sat) (78.9%) as well as high methemoglobinemia (MetHb) (12.1%) and other abnormal results in laboratory tests. Gene sequencing revealed that the missense mutation is located in the HBB gene (HBB: c.190&#xa0;C &gt; T p.His64Tyr), which was described as Hb M Saskatoon disease. This mutation has been reported worldwide in fewer than ten cases, and there have been no reports in China yet. Here, we provide a comprehensive report of all the clinical features of this patient and discuss the potential physiological mechanisms involved in this case.&#xa0;</p>

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The first Chinese hb m-saskatoon [HBB: c.190 c > t p.His64Tyr] case with low oxygen saturation in 50-year-old women

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月21日

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  • Yingjun Zhang,
  • Ge Zhang,
  • Lei Ye,
  • Qingkai Dai,
  • Luyun Peng,
  • Rui Shi,
  • Siqi Guo,
  • Jiajing He,
  • Hao Yang,
  • Wenling Shang,
  • Ke Huang,
  • Liang Zhang,
  • Yuefang Wang

摘要

We reported the first Chinese case of Hb M Saskatoon in a 50-year-old female patient, with the primary manifestation of low oxygen saturation (O2Sat) (78.9%) as well as high methemoglobinemia (MetHb) (12.1%) and other abnormal results in laboratory tests. Gene sequencing revealed that the missense mutation is located in the HBB gene (HBB: c.190 C > T p.His64Tyr), which was described as Hb M Saskatoon disease. This mutation has been reported worldwide in fewer than ten cases, and there have been no reports in China yet. Here, we provide a comprehensive report of all the clinical features of this patient and discuss the potential physiological mechanisms involved in this case.