Martínez G, Cañizares M E
Hum Genet. 1982;62(3):250-1. doi: 10.1007/BF00333530.
A total of 2363 Cuban newborns were screened for genetic hemoglobin abnormalities; 2187 (92.56%) had a normal electrophoretic pattern. Of the 176 samples with abnormal electrophoretic patterns, 102 (4.32%) had hemoglobins A, F plus Bart's; 54 (2.29%) had hemoglobins A, F and S; 3 (0.13%) had hemoglobins A, F, S plus Bart's; 14 (0.59%) had hemoglobins A, F and C; 1 (0.04%) had hemoglobins A, F, C and Bart's. The frequency of Hb Bart's was 4.46% in AA phenotype, 5.25% in AS, and 6.67% in AC. Two newborns were found to have rare variants. A close correlation was found between the observed and expected phenotypes, which indicates the accuracy of the diagnostic methods used. The results of all hemoglobin abnormalities were entered on the infants' hospital records. In addition, these families received genetic counseling.
共有2363名古巴新生儿接受了遗传性血红蛋白异常筛查;其中2187名(92.56%)电泳图谱正常。在176份电泳图谱异常的样本中,102份(4.32%)含有血红蛋白A、F和巴特氏血红蛋白;54份(2.29%)含有血红蛋白A、F和S;3份(0.13%)含有血红蛋白A、F、S和巴特氏血红蛋白;14份(0.59%)含有血红蛋白A、F和C;1份(0.04%)含有血红蛋白A、F、C和巴特氏血红蛋白。在AA表型中,巴特氏血红蛋白的频率为4.46%,在AS表型中为5.25%,在AC表型中为6.67%。发现两名新生儿有罕见变异。观察到的表型与预期表型之间存在密切相关性,这表明所使用诊断方法的准确性。所有血红蛋白异常的结果都记录在婴儿的医院病历中。此外,这些家庭还接受了遗传咨询。