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[Neonatal screening for sickle cell disease in the Consorci Sanitari de Mataro. Rationale and first results].

作者信息

Cabot Dalmau A, Casado Toda M, Barberán Pérez J, Roqueta Sureda M, Martorell Aymerich Q, Bosch Llobet A, Rovira Fernández J M

机构信息

Servicio de Pediatria, Consorci Sanitari de Mataró, Barcelona.

出版信息

An Esp Pediatr. 1998 Aug;49(2):157-60.

PMID:9773551
Abstract

OBJECTIVE

Neonatal screening for sickle cell disease in prevalent population permits its early detection and provides the possibility of starting early prophylactic measures that will greatly reduce the high mortality of the disease.

METHODS

We expose the preliminary results of a neonatal screening for sickle cell disease, with alkaline and acid hemoglobin electrophoresis, selective for the black population coming from subsaharian Africa ad immigrated to our area. They are 82 black neonates born in our hospital between July 1995 and July 1997.

RESULTS

Despite they are too few, we can talk about a gene prevalence (S, C) of 10.98% (95% IC 4.21-17.74), and a disease prevalence (SS, CC, SC, S-betathalassemia) of 1.22% (95% IC 0.00-3.60) which is slightly lower that what we expected.

CONCLUSIONS

Neonatal screening for sickle cell disease in the black immigrated is necessary, and alkaline and acid hemoglobin electrophoresis is an appropriate technique.

摘要

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