[Neonatal diagnosis of hemoglobinopathies]

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.