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Vol. 58. Núm. 2.
Páginas 146-155 (Febrero 2003)
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Vol. 58. Núm. 2.
Páginas 146-155 (Febrero 2003)
Acceso a texto completo
Detección precoz neonatal de anemia falciforme y otras hemoglobinopatías en la comunidad autónoma de Madrid. Estudio piloto
Early detection of sickle cell anemia and other hemoglobinopathies in neonates in the autonomous community of madrid. a pilot study
Visitas
14827
E. Dulín Iñígueza,
Autor para correspondencia
garciacs@ono.com

Correspondencia: Dra. E. Dulín Iñíguez.Laboratorio de Metabolopatías. Hospital General Universitario Gregorio Marañón.Dr. Esquerdo, 46. 28007 Madrid. España
, M.A. Cantalejo Lópezb, M.E. Cela de Juliánb, P. Galarón Garcíb
a Laboratorio de Metabolopatías. Plan de Prevención de Minusvalías
b Sección de Oncohematología Pediátrica. Hospital General Universitario Gregorio Marañón. Madrid. España
Este artículo ha recibido
Información del artículo
objetivo

Conocer la incidencia de anemia falciforme y otras hemoglobinopatías en la población neonatal de la comunidad de Madrid y determinar la necesidad de realizar su cribado neonatal

métodos

El estudio se realiza sobre el mismo espécimen de sangre seca impregnada en papel, que se utiliza para la detección precoz de hipotiroidismo congénito e hiperplasia suprarrenal congénita.

Se han incluido especímenes de sangre de recién nacidos,procedentes de todos los hospitales públicos y privados del ámbito de la comunidad de Madrid (CAM). El estudio se ha realizado de forma universal. La detección devariantes de hemoglobina se lleva a cabo mediante cromatografía líquida de alta resolución (HPLC). El sistema automático VARIANT separa e identifica las hemoglobinas F, A1c, A, S, C, E/A2 y D. La presencia de variantes se confirmacon cromatografías específicas para betatalasemia (intercambio iónico) y cadenas de globina (fase reversa),con gradientes más expandidos

Resultados

Se han analizado un total de 29.253 especímenes de sangre y se han detectado 98 casos con alguna variante de hemoglobina, con una incidencia global de 1/299, cinco de ellos fueron diagnosticados de anemia falciforme (HbFS y HbFSbtal), con una incidencia de 1/5.851 y 71 casos con rasgo falciforme, con una incidencia de 1/412.

Conclusiones

Los resultados obtenidos reflejan la necesidad de incluirla detección de anemia falciforme dentro del programa decribado neonatal de la comunidad de Madrid

Palabras clave:
Anemia falciforme
Hemoglobinopatías
Cribado neonatal
objective

To determine the incidence of sickle cell anemia andother hemoglobinopathies in the neonatal population of the Autonomous Community of Madrid and to determine the need for a screening program

methods

The study was performed with the same blood spot specimen dried on filter paper used for congenital hypothyroidism and congenital adrenal hyperplasia screening. All neonates born in the public and private hospitals of the Autonomous Community of Madrid were included and universal-type screening was performed. High-performance liquid chromatography (HPLC) was used to detect variant hemoglobins. The variant automated system was used to separate and identify hemoglobin F, A1c, A, S, C, A2/E and D. To confirm variant hemoglobins, specific HPLC for β-thalassemia (ion exchange) and globin chains (reversed phase) with a more expanded gradient were used

Results

A total of 29 253 specimens were screened and 98 cases of variant hemoglobins were detected. The overall incidence was 1/299. There were five cases of sickle cell disease (HbFS and HbFS(tal), with an incidence of 1/5.851, and 71 cases of sickle cell traits (1/412)

Conclusions

These results confirm the need to include screening for sickle cell disease and other hemoglobinopathies in our neonatal program.

Key words:
Sickle cell anemia
Hemoglobinopathies
Neonatalscreening
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