Cribado neonatal de hemoglobinopatías y déficit de glucosa-6-fosfato deshidrogenasa en Cataluña. Estudio piloto en población anónima no relacionada

Abstract

This was a preliminary study on the prevalence of the HbS gene, associated with sickle cell disease, other hemoglobinopathies and G6PD deficiency of immigrant and non-immigrant population of Catalonia. A total of 3,189 blood samples from the Catalan Neonatal Screening Program for Metabolic Diseases (CNSPMD) including 1,620 from immigrant population were screened for haemoglobinopathies and G6PD deficiency. For screening of hemoglobinopathies the high performance liquid chromatography (HPLC) method was used and for the screening of G6PD deficiency, we used the fluorescent spot test as described by ICSH. 1. Hemoglobinopathies: in 47 samples from immigrant population 2 cases of sickle cell anemia (phenotypes FS and FSC) were detected as well as 45 cases of heterozygote carriers of different pathological hemoglobins (HbS, HbC, HbD and HbE). 2. G6PD deficiency: in 29 samples, 3 cases of G6PD deficiency belonging to local (non-immigrant) population of G6PD were detected. The incidence of sickle cell disease in the risk population of Catalonia is 1 case out of 810 samples. This value is significantly higher than that reported for any of the metabolic diseases included in the CNSPMD. Despite it is a preliminary study, the results obtained give further support to the convenience of incorporating a neonatal screening of hemoglobinopathies, at least in the risk population, to the official programs of newborn screening. Due to its feasibility and low cost, a similar criterion might be adopted for the neonatal screening of G6PD deficiency.