Galanello R, Diana G, Furbetta M, Angius A, Melis M A, Rosatelli C, Cao A
J Med Genet. 1980 Oct;17(5):357-62. doi: 10.1136/jmg.17.5.357.
A haemoglobin survey carried out in southern Sardinian newborn infants showed an overall incidence of 12.9% with haemoglobin Bart's of more than 1%. The distribution was trimodal: low (1 to 2%), intermediate (2 to 10%), and high (about 25%). A considerable overlap was seen between the first two groups. Both the 1 to 2% and 2 to 10% groups had thalassaemia-like red cell indices at birth. Newborn infants ascertained as having alpha-thalassaemia at follow-up did not necessarily have unbalanced alpha/non-alpha chain synthesis at birth. At follow-up examination two subjects in the 25% group had developed haemoglobin H disease, and the 2 to 10% group had thalassaemia-like red cell indices and unbalanced globin chain synthesis ratios indicative of heterozygous alpha-thalassaemia. The 1 to 2% group either had normal or slightly reduced alpha-chain synthesis ratios, indicative of the silent alpha-thalassaemia carrier state. Two subjects with 2.0% and 2.5% haemoglobin Bart's at birth had heterozygous beta-thalassaemia at follow-up. Therefore, they were double heterozygotes for alpha- and beta-thalassaemia with alpha/beta-globin chain synthesis ratios of 0.81 and 0.86. Genotype assessment in a few families showed that infants with haemoglobin Bart's levels of more than 2% may have one of the genotypes --alpha/ --alpha or -- --/alpha alpha.
在撒丁岛南部新生儿中开展的一项血红蛋白调查显示，血红蛋白Bart's含量超过1%的总体发生率为12.9%。分布呈三峰型：低水平（1%至2%）、中等水平（2%至10%）和高水平（约25%）。前两组之间有相当程度的重叠。1%至2%组和2%至10%组在出生时均有类似地中海贫血的红细胞指数。随访时被确定为患有α地中海贫血的新生儿在出生时不一定有α/非α链合成失衡的情况。在随访检查中，25%组的两名受试者发展为血红蛋白H病，2%至10%组有类似地中海贫血的红细胞指数和球蛋白链合成失衡比率，提示为杂合子α地中海贫血。1%至2%组的α链合成比率正常或略有降低，提示为静止型α地中海贫血携带者状态。两名出生时血红蛋白Bart's含量分别为2.0%和2.5%的受试者在随访时患有杂合子β地中海贫血。因此，他们是α和β地中海贫血的双重杂合子，α/β球蛋白链合成比率分别为0.81和0.86。对一些家庭进行的基因型评估显示，血红蛋白Bart's水平超过2%的婴儿可能具有以下基因型之一——α/——α或—— ——/αα。
