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本文报告一例β链变异的血红蛋白变种。先证者为18岁、男性、祖籍河南省洛宁县,体健。先证者的母亲、弟、妹及侄儿也携带有相同的异常血红蛋白、均为杂合子。均末发现临床症状和血液学方两的异常改变。一级结构分析证实为 Hb D Punjab[B121(GH4)Glu→Gin]。
This article reports a case of β-chain variant hemoglobin variants. The proband is 18 years old, male, ancestral home Luoning County, Henan Province, physical health. The proband’s mother, brother, sister and nephew also carry the same abnormal hemoglobin, all heterozygous. No abnormal changes in clinical symptoms and hematology were found. Primary structure analysis confirmed Hb D Punjab [B121 (GH4) Glu → Gin].