[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.
Galactéros
F
F
Centre de la drépanocytose et des thalassémies, hôpital Henri-Mondor, Créteil.
D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000517:prevention & control; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000191:economics / Q000379:methods*
Diagnostic néonatal des hémoglobinopathies.