College of Medical Laboratory, Guizhou Medical University, Guiyang, Guizhou, People's Republic of China.
Department of Clinical Laboratory, the Second People's Hospital of Guiyang, Guiyang, Guizhou, People's Republic of China.
Hemoglobin. 2023 May;47(3):130-134. doi: 10.1080/03630269.2023.2231851. Epub 2023 Jul 28.
A 6-month-old female infant presented with unexplained hemolytic anemia, showing no abnormalities by capillary electrophoresis and genetic testing for α- and β-thalassemia mutations that are commonly seen in the Chinese population. A rare Hb Mizuho: [: c.206T > C β 68(E12) Leu- Pro] variant was identified by next-generation sequencing (NGS) and verified by Sanger sequencing. Hb Mizuho: [: c.206T > C β 68(E12) Leu- Pro] is not easily detectable because it is extremely unstable, and the correct diagnosis is usually made via DNA sequencing. This is the first report of this variant in the Chinese population.
一位 6 个月大的女婴因不明原因的溶血性贫血就诊，毛细管电泳和常见于中国人群的α和β-地中海贫血突变的基因检测均未见异常。通过下一代测序（NGS）鉴定出一种罕见的 Hb Mizuho 变异体[: c.206T > C β 68(E12) Leu- Pro]，并通过 Sanger 测序进行了验证。由于 Hb Mizuho 变异体[: c.206T > C β 68(E12) Leu- Pro]极不稳定，因此不易检测到，通常通过 DNA 测序做出正确诊断。这是该变异体在中国人群中的首次报道。
