The first Chinese hb m-saskatoon [HBB: c.190 c > t p.His64Tyr] case with low oxygen saturation in 50-year-old women
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.
Authors
- Kai Huang (ORCID: https://orcid.org/0000-0001-8907-4441)
- Siqi Guo (ORCID: https://orcid.org/0000-0002-7280-7888)
- Yuefang Wang (ORCID: https://orcid.org/0000-0001-8380-1740)
- Ge Zhang (ORCID: https://orcid.org/0009-0000-8889-7403)
- Lei Ye (ORCID: https://orcid.org/0000-0003-4064-4460)
- Liang Zhang (ORCID: https://orcid.org/0000-0003-2872-7992)
- Rui Shi (ORCID: https://orcid.org/0000-0002-9374-0897)
- Ying‐Jun Zhang (ORCID: https://orcid.org/0000-0002-0295-337X)
- Hao Yang (ORCID: https://orcid.org/0000-0002-9839-7960)
- Jiajing He
- Wangyi Shang
- Qingkai Dai
- Luyun Peng (ORCID: https://orcid.org/0000-0001-8508-9144)
Institutions
- Sichuan University (CN)
- West China Second University Hospital of Sichuan University (CN)
- Command Hospital Air Force (IN)
Publication Details
- Journal
- Annals of Hematology
- Published
- 2025-10-21
- DOI
- https://doi.org/10.1007/s00277-025-06631-4
- Citations
- 1
- Primary Topic
- Methemoglobinemia and Tumor Lysis Syndrome
- Type
- article
- Field-Weighted Citation Impact
- 1.52