Oggiano L, Rimini E, Frogheri L, Guiso L, Pistidda P, Longinotti M
Istituto CNR per lo Studio della Patologia del Sangue, Sassari, Italy.
Clin Lab Haematol. 1992;14(4):289-92.
In this paper we report an unusual Sardinian family, in which the heterozygosity for beta zero 39-thalassaemia and for triple alpha-globin gene complex have been found in two members: the former showing a high HbA2 mild thalassaemia intermedia syndrome, the latter, her daughter, showing a normal HbA2 thalassaemia trait. Molecular analysis revealed the daughter to also be a carrier of a delta+27-thalassaemia point mutation, which in trans to the beta zero 39 defect invariably normalizes the HbA2 levels.
在本文中，我们报告了一个特殊的撒丁岛家族，其中两名成员被发现存在β0 39地中海贫血杂合子和三重α珠蛋白基因复合体：前者表现出高HbA2的轻度中间型地中海贫血综合征，后者即她的女儿，表现出正常HbA2的地中海贫血特征。分子分析显示，女儿还是δ+27地中海贫血点突变的携带者，该突变与β0 39缺陷反式排列时可使HbA2水平始终正常化。
