Furbetta M, Galanello R, Ximenes A, Angius A, Melis M A, Serra P, Cao A
Br J Haematol. 1979 Feb;41(2):203-10. doi: 10.1111/j.1365-2141.1979.tb05849.x.
Our paper describes two Sardinian families with alpha-beta thalassaemia interaction. In the first (family S), the propositus, whose haemoglobin pattern at birth consisted of about 25% Hb Bart's and 75% Hb F, successively developed a clinical and haematological picture typical of Cooleys anaemia. Haematological and globin chain synthesis studies together with these findings suggest that he is homozygous for beta 0 thalassaemia and heterozygous for alpha thalassaemia-1 and alpha thalassaemia-2. This conclusion is further substantiated by the finding of various combination of alpha and beta thalassaemia among his family members. In the P family two twins whose haemoglobin pattern and synthesis data at birth were similar to those of the proband of family S died in the neonatal period. The mother was assumed to be a compound heterozygte for alpha thalassaemia-2 and beta 0 thalassaemia and the father for alpha thalassaemia-1 and beta 0 thalassaemia. The homozygous state for beta 0 thalassaemia in association with the alpha thalassaemia 1 and alpha thalassaemia 2 genes results in a severe clinical picture similar to that of a homozygous beta 0 thalassaemia. The interaction between the heterozygous state for beta 0 thalassaemia and the alpha thalassaemia 1 or alpha thalassaemia 2 genes, or the combination of both, results in a haematological picture similar to that of a beta thalassaemia heterozygote.
我们的论文描述了两个患有α-β地中海贫血相互作用的撒丁岛家庭。在第一个家庭（S家庭）中，先证者出生时的血红蛋白模式约为25%的Hb Bart's和75%的Hb F，随后发展出典型的库利贫血的临床和血液学表现。血液学和珠蛋白链合成研究以及这些发现表明，他是β0地中海贫血纯合子，α地中海贫血-1和α地中海贫血-2杂合子。他的家庭成员中存在各种α和β地中海贫血组合的发现进一步证实了这一结论。在P家庭中，两个双胞胎出生时的血红蛋白模式和合成数据与S家庭的先证者相似，在新生儿期死亡。母亲被认为是α地中海贫血-2和β0地中海贫血的复合杂合子，父亲是α地中海贫血-1和β0地中海贫血的复合杂合子。β0地中海贫血纯合状态与α地中海贫血1和α地中海贫血2基因相关联会导致严重的临床表现，类似于纯合β0地中海贫血。β0地中海贫血杂合状态与α地中海贫血1或α地中海贫血2基因之间的相互作用，或两者的组合，会导致类似于β地中海贫血杂合子的血液学表现。
