[Early detection of sickle cell anemia and other hemoglobinopathies in neonates in the Autonomous Community of Madrid. A pilot study].

OBJECTIVE

To determine the incidence of sickle cell anemia and other 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 -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.