Sriroongrueng W, Pornpatkul M, Panich V, Fucharoen S
Department of Pathology, Faculty of Medicine, Prince of Songkla University, Thailand.
Southeast Asian J Trop Med Public Health. 1997;28 Suppl 3:93-6.
The incidence of alpha-thalassemia has been studied previously based on the levels of Hb Barts' in cord blood. This method is an inadequate indicator of alpha-thalassemia. Thus in this study we use DNA analysis to get more accurate data. Hb Barts' was detected in placental blood samples from 15.5% of 375 infants born at Songklanagarind Hospital. The white blood cell DNA of 300 samples was studied for alpha-globin gene deletions by hybridization of DNA fragments digested by the restriction endonuclease Eco RI with specific 32P-labled zeta-globin gene probe. The incidence of alpha-thal 2 and alpha-thal 1 traits were 12.0% and 4.3%, with the gene frequencies 0.0650 and 0.0217 for -alpha/and --/, respectively. The incidence of HB CS trait was 5.8%, with the gene frequency of 0.0292 for alpha cs alpha/. We also found that the incidence of the triplicated zeta and triplicated alpha were 14.7 and 1.0%, with the gene frequencies of 0.0733 and 0.0050 for zeta zeta zeta/and alpha alpha alpha/, respectively. The DNA lesion of alpha-thalassemia in the south is similar to the study of Tanphaichitr et al (1988) in central Thailand. Knowledge of alpha-globin gene deletion would be useful for prenatal diagnosis of Bart's hydrops to prevent toxemia of pregnancy in the south of Thailand.
先前曾基于脐血中血红蛋白巴氏(Hb Barts')水平对α地中海贫血的发病率进行过研究。该方法作为α地中海贫血的指标并不充分。因此,在本研究中,我们采用DNA分析以获取更准确的数据。在宋卡纳卡林医院出生的375名婴儿的胎盘血样本中,15.5%检测到了Hb Barts'。通过用限制性内切酶Eco RI消化的DNA片段与特定的32P标记的ζ珠蛋白基因探针杂交,对300份样本的白细胞DNA进行α珠蛋白基因缺失研究。α地中海贫血2型和α地中海贫血1型特征的发病率分别为12.0%和4.3%,-α/αα和--/αα的基因频率分别为0.0650和0.0217。Hb CS特征的发病率为5.8%,αcsα/αα的基因频率为0.0292。我们还发现,ζ珠蛋白基因三倍体和α珠蛋白基因三倍体的发病率分别为14.7%和1.0%,ζζζ/ααα和ααα/ααα的基因频率分别为0.0733和0.0050。泰国南部α地中海贫血的DNA损伤情况与Tanphaichitr等人(1988年)在泰国中部的研究相似。了解α珠蛋白基因缺失情况对于巴氏水肿胎儿的产前诊断以及预防泰国南部的妊娠中毒症将是有用的。