Galanello R, Maccioni L, Ruggeri R, Perseu L, Cao A
Br J Haematol. 1984 Oct;58(2):361-8. doi: 10.1111/j.1365-2141.1984.tb06095.x.
In this study we describe the correlation between the haematological parameters (red cell indices and Hb Bart's levels) and the alpha-globin genotype in Sardinian newborns. Increased Hb Bart's levels at birth always indicates alpha-thalassaemia, either of the deletion or non-deletion variety. Infants with two alpha-globin genes deleted (- alpha/- alpha and --/ alpha alpha genotypes) had microcytosis, low MCH and Hb Bart's in the 2.0-7.1% range. A minority (38.9%) of infants with the (- alpha/ alpha alpha) globin genotype had detectable Hb Bart's, in the 0.78-2.5% range, frequently associated with minimal microcytosis while the remainder (61.1%) were completely silent. Infants carriers of a non-deletion type of alpha-thalassaemia showed Hb Bart's levels within the range found in the (- alpha / alpha alpha) genotype. The association of heterozygous beta 0-thalassemia seems to have no effect on the expression of any of these alpha-thalassaemia lesions at birth.
在本研究中，我们描述了撒丁岛新生儿血液学参数（红细胞指数和巴氏血红蛋白水平）与α-珠蛋白基因型之间的相关性。出生时巴氏血红蛋白水平升高始终表明存在α-地中海贫血，无论是缺失型还是非缺失型。两个α-珠蛋白基因缺失的婴儿（-α/-α和--/αα基因型）有小红细胞症、低平均红细胞血红蛋白量，且巴氏血红蛋白水平在2.0%-7.1%范围内。少数（38.9%）具有（-α/αα）珠蛋白基因型的婴儿可检测到巴氏血红蛋白，水平在0.78%-2.5%范围内，常伴有轻微小红细胞症，而其余（61.1%）则完全无异常表现。非缺失型α-地中海贫血携带者婴儿的巴氏血红蛋白水平在（-α/αα）基因型所发现的范围内。杂合子β0-地中海贫血的关联似乎对出生时这些α-地中海贫血病变的任何一种表达均无影响。
