Parfrey P S, Barnett M, Sachs J A, Pollock D J, Turnbull A L
Scand J Haematol. 1981 Oct;27(4):294-302. doi: 10.1111/j.1600-0609.1981.tb00487.x.
23 descendents of a 74--year-old Englishman who had beta-thalassaemia trait, and died of hepatoma, were studied to discover whether thalassaemia minor alone could predispose to iron overload. Serum ferritin and HLA antigens were assessed in all members, and adults underwent radioiron investigations and liver biopsy. 2 members of the second generation and 1 of the third generation, all of whom had thalassaemia trait, had elevated liver iron concentration, indicating preclinical iron overload. This was not associated with any HLA type. None of the subjects had been treated with exogenous iron. The one member of the second generation who had thalassaemia minor but not iron overload was female, and the 5 members of the third generation with the trait, but with normal serum ferritin levels, were all under the age of 15 years. Members of the family without beta-thalassaemia minor had normal iron metabolism. It is possible that the development of iron overload in 4 members of this family was related to the presence of thalassaemia minor, and not to the inheritance of another abnormal gene causing idiopathic haemochromatosis.
对一名患有β地中海贫血特征且死于肝癌的74岁英国男性的23名后代进行了研究,以确定单独的轻度地中海贫血是否易导致铁过载。对所有成员评估了血清铁蛋白和HLA抗原,成年人接受了放射性铁检查和肝活检。第二代的2名成员和第三代的1名成员,均具有地中海贫血特征,其肝脏铁浓度升高,表明存在临床前铁过载。这与任何HLA类型均无关联。所有受试者均未接受过外源性铁治疗。第二代中患有轻度地中海贫血但无铁过载的那名成员为女性,第三代中5名具有该特征但血清铁蛋白水平正常的成员均未满15岁。该家族中无轻度β地中海贫血的成员铁代谢正常。这个家族中4名成员出现铁过载可能与轻度地中海贫血的存在有关,而与导致特发性血色素沉着症的另一个异常基因的遗传无关。