Galactéros F
Centre de la drépanocytose et des thalassémies, hôpital Henri-Mondor, Créteil.
Rev Prat. 1992 Oct 1;42(15):1893-5.
The technical problem of neonatal diagnosis of haemoglobinopathies has definitely been solved. There is no longer a methodological obstacle to a formal distinction between heterozygous and homozygous subjects with sickle cell disease, despite the presence at birth of strong haemoglobin F and F-acetylated concentrations. In France as in the USA and Great Britain mass screening for sickle cell disease in the newborn is necessary because this disease is frequent- as a monogenic hereditary disease it ranks second to cystic fibrosis on average and first in the Paris region-detection is useful for an early diagnosis and the new method is inexpensive.
新生儿血红蛋白病诊断的技术问题肯定已经解决。尽管出生时存在高浓度的血红蛋白F和F - 乙酰化血红蛋白,但在鉴别镰状细胞病杂合子和纯合子个体方面,已不再存在方法学上的障碍。在法国、美国和英国,新生儿镰状细胞病的大规模筛查是必要的,因为这种疾病很常见——作为一种单基因遗传病,它的发病率平均仅次于囊性纤维化,在巴黎地区则位居第一——检测有助于早期诊断,而且新方法成本低廉。