Evidence map›Paper›PMID 41116143›Full record

ArticleAnnals of hematology2025

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

Yingjun Zhang, Ge Zhang, Lei Ye, Qingkai Dai, Luyun Peng, Rui Shi, Siqi Guo, Jiajing He, Hao Yang, Wenling Shang and 3 more

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Article in Annals of hematology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

13 authors.

Yingjun ZhangDepartment of Laboratory Medicine, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Ge ZhangDepartment of Laboratory Medicine, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Lei YeDepartment of Laboratory Medicine, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Qingkai DaiDepartment of Laboratory Medicine, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Luyun PengDepartment of Laboratory Medicine, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Rui ShiDepartment of Laboratory Medicine, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Siqi GuoDepartment of Laboratory Medicine, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Jiajing HeDepartment of Laboratory Medicine, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Hao YangDepartment of Laboratory Medicine, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Wenling ShangDepartment of Laboratory Medicine, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Ke HuangAir Force Hospital of Western Theater Command, PLA, Chengdu, Sichuan, China.
Liang ZhangDepartment of General Internal Medicine, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. kidneyzl2018@foxmail.com.
Yuefang WangDepartment of Laboratory Medicine, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. 505926169@qq.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Hemoglobin MHemoglobins, AbnormalMethemoglobinemiaMutation, MissenseOxygenOxygen SaturationAmino Acid SubstitutionChinaEast Asian PeopleFemaleHumansMiddle AgedHemoglobin MHemoglobins, AbnormalOxygenHb M diseaseHemoglobinLow oxygen saturation

Identifiers

PMID41116143
PMCPMC12764557

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