[Neonatal diagnosis of hemoglobinopathies]
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Biochemical Measurement of Neonatal Hypoxia
Published on: August 24, 2011
1Centre de la drépanocytose et des thalassémies, hôpital Henri-Mondor, Créteil.
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.
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.
