[Neonatal screening for sickle cell anemia: evaluation of a five-year experience in an area of northern Paris].
We report a five-year experience of targeted neonatal screening for sickle cell disease in the northern part of the Paris area as well as the follow-up procedure of screened patients.


METHODS
This geographic area in France is characterized by a high frequency of populations at risk for sickle cell disease.


RESULTS
Among 115,480 tested newborns, 250 patients were diagnosed (frequency: 1/462). The quality of the screening was attested by the high frequency (5.34%) of newborn carriers for a hemoglobin abnormality (n = 6168). We developed an optimized strategy which avoids the majority of pitfalls (false positive and false negative responses), except for S/HPFH. More than 95% of sickle cell disease was followed, the majority by medical sickle cell disease experts from hospitals. Only two deaths were recorded during this time period.


CONCLUSIONS
We demonstrate the efficiency of targeting the proposed methodological strategy and the follow-up of affected newborns, a major argument demonstrating the importance of newborn screening.
Ducrocq
R
R
Biochimie génétique et Inserm U 458, hôpital Robert-Debré, 48, boulevard Sérurier, 75019 Paris, France. rolande.ducrocq@rdb.ap-hop-paris.fr
Benkerrou
M
M
Brahimi
L
L
Belloy
M
M
Briard
M L
ML
Vilmer
E
E
Elion
J
J
D000755:Anemia, Sickle Cell / Q000175:diagnosis* / Q000453:epidemiology; D005189:False Positive Reactions; D005260:Female; D005602:France / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening; D014505:Urban Population