黑人婴儿中α地中海贫血的检测

Detection of alpha thalassaemia in Negro infants.

作者信息

Higgs D R, Pressley L, Clegg J B, Weatherall D J, Higgs S, Carey P, Serjeant G R

出版信息

Br J Haematol. 1980 Sep;46(1):39-46. doi: 10.1111/j.1365-2141.1980.tb05933.x.

DOI:10.1111/j.1365-2141.1980.tb05933.x

Abstract

A prospective study of 2191 Negro infants in Jamaica showed that approximately 7% of them had detectable levels of Hb Bart's (gamma 4) in the neonatal period. The red cell indices, globin chain biosynthesis and restriction endonuclease mapping of DNA from these infants were used to determine the significance of Hb Bart's at birth. The results indicate that the genotypes alpha alpha/alpha alpha, -- alpha/alpha alpha and -- alpha/ -- alpha are associated with 0%, 0.1-2%, and greater than 2% Hb Bart's respectively. Although trace amounts of Hb Bart's may be associated with the genotype -- alpha/alpha alpha this is not always the case and therefore haemoglobin analysis in the neonatal period cannot be used to diagnose this genotype with any certainty.

摘要

对牙买加2191名黑人婴儿进行的一项前瞻性研究表明，约7%的婴儿在新生儿期可检测到血红蛋白Bart's（γ4）水平。利用这些婴儿的红细胞指数、珠蛋白链生物合成及DNA限制性内切酶图谱来确定出生时血红蛋白Bart's的意义。结果表明，基因型αα/αα、--α/αα和--α/--α分别与0%、0.1 - 2%和大于2%的血红蛋白Bart's相关。虽然微量的血红蛋白Bart's可能与基因型--α/αα有关，但并非总是如此，因此新生儿期的血红蛋白分析不能确定地用于诊断该基因型。