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- W2012081491 abstract "Neonatal screening of sickle cell discase and thalassemias in Paris : two major genetic disorders among immigrant populations from the South. Jacques ROCHETTE and Yves CHARBIT « Hemoglobinopathies » is a common term for inherited disorders of hemoglobin, the major constituant of red blood cells. Numerically, the most important are thalassemias caused by a reduced rate of synthesis of hemoglobin subunits ; and the sickle celle disease is caused by structural modifications of this protein. The hemoglobinopathies used to be very rare in Northern Europe, but since the 1950s their incidence has increased steadily because of intra-European and gobal migration. This is particularly true in France where the immigration of various ethnic groups at risk for hemoglobinopathies is growing up and amplifled by the qualitative change in these populations which include an increasing number of young women and children. It is commonly accepted that early diagnosis and prophylactic treatment of sickle cell disease can reduce mortality and morbidity. We have therefore undertaken neonatal screening for genetic hemoglobin disorders in the center and in the south suburb of Paris. Taking into account the composition of the populations the incidence of hemoglobinopathies was as expected. Beside the neonatal screening we have done, other periods could be the school medicine of young people and the antenatal clinic of pregnant women. This last procedure is the only one efficient allowing to offer genetic counselling for people at risk and the possibility of prenatal diagnosis." @default.
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- W2012081491 date "1990-01-01" @default.
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- W2012081491 title "Deux maladies génétiques : la drépanocytose et les thalassémies. Enquêtes en région parisienne" @default.
- W2012081491 doi "https://doi.org/10.3406/remi.1990.1265" @default.
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