意大利人群中的α地中海贫血

Alpha thalassaemia in an Italian population.

作者信息

Velati C, Sampietro M, Biassoni M, Cappellini M D, Wainscoat J S, Higgs D R, Fiorelli G

出版信息

Br J Haematol. 1986 Jul;63(3):497-501. doi: 10.1111/j.1365-2141.1986.tb07526.x.

DOI:10.1111/j.1365-2141.1986.tb07526.x

Abstract

The incidence of alpha-thalassaemia in an Italian population has been determined by a survey of random cord bloods for the presence of Hb Bart's. 144 out of 4730 (3%) had detectable amounts of Hb Bart's. Furthermore, alpha-globin gene analysis of 100 random cord bloods showed that five out of 100 had the common type of alpha-thalassaemia caused by a single alpha-globin gene deletion (-alpha). The molecular basis of alpha-thalassaemia was also determined in a selected group of 34 newborns with detectable levels of Hb Bart's. 25 of these cases had the -alpha 3.7 deletion type of alpha-thalassaemia and nine had nondeletion types of alpha-thalassaemia in four of which the molecular defect was detectable directly by restriction enzyme analysis.

摘要

通过对随机采集的脐带血进行血红蛋白Bart's检测，确定了意大利人群中α地中海贫血的发病率。4730份脐带血中有144份（3%）检测到了血红蛋白Bart's。此外，对100份随机脐带血进行的α珠蛋白基因分析显示，100份中有5份存在由单个α珠蛋白基因缺失（-α）引起的常见类型的α地中海贫血。还对一组选定的34名血红蛋白Bart's水平可检测的新生儿进行了α地中海贫血分子基础的测定。其中25例为-α3.7缺失型α地中海贫血，9例为非缺失型α地中海贫血，其中4例可通过限制性内切酶分析直接检测到分子缺陷。