Efremov G D, Wrightstone R N, Huisman T H, Schroeder W A, Hyman C, Ortega J, Williams K
J Clin Invest. 1971 Aug;50(8):1628-36. doi: 10.1172/JCI106651.
A Chinese family with hemoglobin H in the propositus has been reinvestigated. Although the original propositus is now deceased, a sister has the same hematological manifestations. Her hemoglobin, like that of the deceased sister, contains hemoglobins A, H, and Bart's. In addition, however, two minor components have been detected. These minor components appear to have abnormal alpha-chains and are also present in the maternal grandmother, the mother, a maternal aunt, and three other siblings but only in about one-tenth the amount. One of the minor components may be the same as Hb-Thai (25). The father has the characteristics of classical alpha-thalassemia. These results are discussed in relation to current concepts of alpha-thalassemia as they relate to "silent" and "classical" alpha-thalassemia and to possible multiple alpha-chain loci.
对一名先证者患有血红蛋白H的中国家系进行了重新调查。虽然最初的先证者现已去世，但她的一个妹妹有相同的血液学表现。她的血红蛋白与已故妹妹的一样，含有血红蛋白A、H和巴特氏血红蛋白。然而，除此之外，还检测到了两个次要成分。这些次要成分似乎具有异常的α链，并且也存在于外祖母、母亲、一位姨妈和其他三个兄弟姐妹中，但含量仅约为前者的十分之一。其中一个次要成分可能与Hb-Thai相同（文献25）。父亲具有典型α地中海贫血的特征。结合当前关于α地中海贫血的概念，讨论了这些结果，这些概念涉及“静止型”和“典型”α地中海贫血以及可能的多个α链基因座。
