Segbena A Y, Prehu C, Wajcman H, Bardakdjian-Michau J, Messie K, Feteke L, Vovor A, David M, Feingold J, Galacteros F
Service d'Hématologie du CHU de Lomé-Faculté Mixte de Médecine et de Pharmacie, Togo.
Am J Hematol. 1998 Nov;59(3):208-13. doi: 10.1002/(sici)1096-8652(199811)59:3<208::aid-ajh5>3.0.co;2-r.
The gene frequency of the most important hemoglobin (Hb) abnormalities is reported in a population of 171 Togolese newborns. Hb phenotypes, hematological parameters, and the more frequently described alpha-gene deletions were analyzed. Structural abnormalities of beta-globin were observed in 35.7% of the children with a gene frequency of 0.105 for beta(S) and 0.091 for beta(C). The frequency of the different alpha-globin genotypes was alpha alpha/ = 0.71, -alpha/ = 0.28, and alpha alpha alpha/ = 0.01. All of the individuals homozygous for the -alpha genotypes, and most of the heterozygous individuals, carried Hb Bart's. Within the alpha alpha/alpha alpha and the -alpha/alpha alpha groups, several individuals with or without Hb Bart's were found; they did not differ from the others by their red blood cell (RBC) parameters but by their levels of fetal hemoglobin (Hb F). The African alpha2 polymorphism marker, characterized by the replacement of G by TCGGCCC at position 7238 (EMBL HSHBA4, 1993) and of T 7174 by G, was found in 21 newborns. The mean value of Hb F was calculated for each genotype, the mean (G)gamma percentage was 69.4 +/- 4.0%, and the gene frequency of the AgammaT marker was 0.10; this marker was linked to the normal beta-globin cluster.
报道了171名多哥新生儿群体中最重要的血红蛋白（Hb）异常的基因频率。分析了Hb表型、血液学参数以及更常见的α基因缺失情况。在35.7%的儿童中观察到β珠蛋白的结构异常，β(S)的基因频率为0.105，β(C)的基因频率为0.091。不同α珠蛋白基因型的频率为αα/ = 0.71，-α/ = 0.28，ααα/ = 0.01。所有-α基因型纯合个体以及大多数杂合个体都携带Hb Bart's。在αα/αα和-α/αα组中，发现了一些有或没有Hb Bart's的个体；他们与其他个体的红细胞（RBC）参数没有差异，但胎儿血红蛋白（Hb F）水平不同。在21名新生儿中发现了非洲α2多态性标记，其特征是在第7238位由G替换为TCGGCCC（EMBL HSHBA4，1993）以及在第7174位由T替换为G。计算了每种基因型的Hb F平均值，平均（G）γ百分比为69.4 +/- 4.0%，AgammaT标记的基因频率为0.10；该标记与正常β珠蛋白基因簇相关。
