ABSTRACT
BACKGROUND AND OBJECTIVE: 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. PATIENTS AND METHOD: 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. RESULTS: 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. CONCLUSIONS: 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.
Subject(s)
Glucosephosphate Dehydrogenase Deficiency/diagnosis , Hemoglobinopathies/diagnosis , Neonatal Screening , Emigration and Immigration , Female , Hemoglobin SC Disease/diagnosis , Hemoglobin SC Disease/genetics , Hemoglobin, Sickle/genetics , Humans , Infant, Newborn , Male , SpainABSTRACT
Fundamento y objetivo: Realizar un estudio preliminar sobre la prevalencia de la hemoglobina (Hb) S, asociada a la anemia falciforme o drepanocitosis, otras hemoglobinopatías y el déficit de glucosa-6-fosfato deshidrogenasa (G6PD) en neonatos de población autóctona de Cataluña e inmigrada. Pacientes y método: Se ha analizado 3.189 muestras de sangre procedentes del Programa de Cribado Neonatal de Cataluña (autóctona: 1.569; inmigrada: 1.620). El estudio de hemoglobinas se ha realizado mediante cromatografía líquida de alta resolución (HPLC) y el de déficit de G6PD, mediante la técnica de la mancha fluorescente (ICSH). Resultados: En 47 muestras, todas ellas pertenecientes a población inmigrada, se ha detectado 2 casos de anemia falciforme (fenotipos FS y FSC) y 45 hemoglobinopatías en estado heterocigoto (HbS, HbC, HbD y HbE). En 29 muestras, 3 de ellas pertenecientes a población autóctona se ha detectado un déficit del G6PD. Conclusiones: La prevalencia de la anemia falciforme en población de riesgo es 1 por cada 810 muestras analizadas, valor sensiblemente superior al observado para otras enfermedades incluidas en el programa oficial de cribado neonatal. Los resultados de este estudio preliminar confirman la conveniencia de incorporar el cribado de hemoglobinopatías, en la población de riesgo, al programa de cribado neonatal ya existente. Por su gran simplicidad técnica y bajo coste, un criterio parecido podría adoptarse para el cribado neonatal universal del déficit de G6PD
Background and objective: 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. Patients and method: 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. Results: 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. Conclusions: 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
