Meloni T, Forteleoni G, Meloni G F
Clinica Pediatrica A. Filia, Università Sassari, Italia.
Acta Haematol. 1992;87(1-2):29-31. doi: 10.1159/000204709.
Favism is a potentially fatal manifestation of glucose-6-phosphate dehydrogenase (G6PD) deficiency, and it is therefore a public health problem in areas where this genetic abnormality is common. In the district of Sassari (northern Sardinia), the frequency of G6PD male hemizygotes is approximately 7.5%, and therefore all newborns since 1971 have been screened for G6PD deficiency. We have analyzed the incidence of favism in this community in two 10-year periods: (1) 1961-1970; and (2) 1981-1990. In period 1, there were 508 cases of favism, of which 76% occurred in boys. In period (2) there were 144 cases of favism, of which only 52% in boys. Thus, between the two periods there was an overall decrease in the incidence of favism of 75%, whereas the proportion of girls affected has approximately doubled. These data suggest that neonatal screening and health education programs can produce a substantial decrease in the number of cases of favism, and that the relative increase in favism in girls is possibly due to failure of the screening method used to detect all the heterozygotes for G6PD deficiency.
蚕豆病是葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的一种潜在致命表现,因此在这种基因异常常见的地区,它是一个公共卫生问题。在萨萨里地区(撒丁岛北部),G6PD男性半合子的频率约为7.5%,因此自1971年以来,所有新生儿都接受了G6PD缺乏症筛查。我们分析了该社区在两个10年期间的蚕豆病发病率:(1)1961 - 1970年;以及(2)1981 - 1990年。在第1阶段,有508例蚕豆病病例,其中76%发生在男孩中。在第2阶段有144例蚕豆病病例,其中只有52%发生在男孩中。因此,在这两个时期之间,蚕豆病的发病率总体下降了75%,而受影响女孩的比例大约翻了一番。这些数据表明,新生儿筛查和健康教育项目可以大幅减少蚕豆病病例的数量,并且女孩中蚕豆病相对增加可能是由于用于检测所有G6PD缺乏症杂合子的筛查方法存在缺陷。