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见于湖南江华县的一例慢泳血红蛋白α链变种,其先证者为汉族青年,属杂合子。家系调查发现其父、大姐和弟均携有同样的异常Hb。血液学常规检查一般正常。除先证者肝在肋缘下0.5cm扪及外,无任何临床症状。经一级结构分析,确证此例为HbG一台中[α74(EF3)Asp→His]。功能观测其氧平衡特征与HbA无差异。这是见于湖南的首例。
A case of slow-hemoglobin alpha-chain variant found in Jianghu County, Hunan Province, whose proband was a Han nationality, is a heterozygote. Pedigree survey found that their parents, eldest sister and brother carry the same abnormal Hb. Hematology routine examination is normal. In addition to the proband liver 0.5cm palpable under the ribs margin, without any clinical symptoms. The primary structure analysis confirmed this case HbG a [α74 (EF3) Asp → His]. Function to observe the oxygen balance characteristics and HbA no difference. This is the first case seen in Hunan.