title: [Sickle cell disease neonatal screening. First evaluation].
abstract: A neonatal screening allows a preclinical diagnosis of major sickle cell syndromes and an early management of the affected children. That would improve their life quality and expectancy. The preliminary program was set up on 518 senegalese newborn aged from 1 to 4 days, and coming from all the country ethnic groups. Isoelectrofocalisation is the test used on dried blood eluate and the positive control on citrate agar gel. 478 samples out of 518 (92.5%) have been analysed. Haemoglobinopathy have been found in 11.1% of cases, distributed as follow: heterozygoty FAS and FAC: 9%, double heterozygoty FSC: 0.2% and homozygoty FSS: 1.9%. Sickle cell neonatal screening should be imperatively implemented, with regards in economical considerations. It would be relevant to integrate it in a larger program including information, training and genetic counselling in order to avoid homozygotes birth and to lower the spread of this disease.
authors.affiliation: Laboratoire de Biophysique et de Médecine Nucléaire-UCAD.
authors.forename: M
authors.initials: M
authors.lastname: Mbodj
authors.forename: O
authors.initials: O
authors.lastname: Ndoye
authors.forename: M
authors.initials: M
authors.lastname: Diarra
authors.forename: B N
authors.initials: BN
authors.lastname: Mbaye
authors.forename: H
authors.initials: H
authors.lastname: Sow Toure
authors.forename: L
authors.initials: L
authors.lastname: Diouf
authors.forename: S
authors.initials: S
authors.lastname: Gassama Seck
authors.forename: J L
authors.initials: JL
authors.lastname: Dhondt
authors.forename: J P
authors.initials: JP
authors.lastname: Farriaux
mesh_terms: D000755:Anemia, Sickle Cell / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000379:methods*; D011379:Prognosis; D011788:Quality of Life; D012675:Senegal; D012680:Sensitivity and Specificity