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江苏省首例血红蛋白Iα16(A14)Lys→Glu报告

The First Case of Hbl α~16(A14) Lys →Glu Discovered in Jiangsu

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【作者】 马剑平张继斌敖忠芳宫道华汪敏娟方培孙苏林

【Author】 Ma Jianping, et al.;Fang Pei;Sun Sulin The First Affiliated Hospital, Nanjing Medical College, Nanjing The Affiliated Hospital, Zengjiang Medical College, Zengjiang

【机构】 南京医学院第一附属医院镇江医学院附属医院镇江医学院附属医院

【摘要】 报告1例快泳动的异常血红蛋白,患者系13岁,女,汉族,江苏丹徒人。异常血红蛋白一级结构分析为HbIα16(A14)Lys→Glu。家系调查其母亲、姨母带相同异常Hb,含量相似,均无临床症状。

【Abstract】 A case with fast-moving α-chain HbI variant was reported. The probandwas a 13-year-old girl of Han ethnic group in Jiangsu province. Structural analysis of the ab-normal hemoglobin showed that it was HbIα16(A14) Lys→Glu. She and her two family mem-bers carrying the same variant were all heterozygotes. They were healthy and free fromsymptoms and signs attributable to the abnormal hemoglobin.

【关键词】 HbI-级结构分析人类江苏
【Key words】 HbIsequence analysishumanJiangsu
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