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本文报道在广东连南瑶族自治县发现一例快速β链变异的不稳定血红蛋白。先证者女性,13岁,瑶族广东连南县人。异常血红蛋白相对含量39.2％,热变性试验27.8％,体检无明显异常。家系调查四代共9人,有5人携带同样异常血红蛋白,均为杂合子。结构分析证明β链第24位G1y→Asp,证实为HbMoscvao<_2β_224(B_6)Gly→Asp。异常血红蛋白的发生可能是基因突变的结果。国内尚未见有同种常血红蛋白变异体的报道。
This article reports the discovery of a case of unstable β-chain hemoglobin in Guangdong Liannan Yao Autonomous County. Probate female, 13 years old, Yao Guangdong Liannan County. Abnormal hemoglobin content of 39.2%, 27.8% of thermal denaturation test, no significant physical examination. Family survey of four generations a total of 9 people, 5 people carrying the same abnormal hemoglobin, are heterozygous. Structural analysis proves that G1y → Asp at the 24th position of β chain is confirmed as HbMoscvao <_2β_224 (B_6) Gly → Asp. Abnormal hemoglobin may be the result of genetic mutations. There have been no reports of the same type of hemoglobin variant in China.