Neonatal screening of hemoglobinopathies and G6PD deficiency in Catalonia (Spain). Molecular study of sickle cell disease associated with alpha thalassemia and G6PD deficiency

• Published in: Medicina clínica Vol. 129; no. 5; p. 161
• Main Authors: Mañú Pereira, María Del Mar, Cabot, Anna, Martínez González, Ana, Sitjà Navarro, Eulalia, Cararach, Vicent, Sabrià, Josep, Boixaderas, Jordi, Teixidor, Roser, Bosch, Albert, López Vílchez, M Angeles, Martín Ibáñez, Itziar, Carrión, Teresa, Plaja, Pere, Sánchez, Mario, Vives Corrons, José Luis
• Format: Journal Article
• Language: Spanish
• Published: Spain 30.06.2007
• Subjects: alpha-Thalassemia - blood; alpha-Thalassemia - diagnosis; Anemia, Sickle Cell - blood; Anemia, Sickle Cell - diagnosis; Female; Fetal Blood; Glucosephosphate Dehydrogenase Deficiency - blood; Glucosephosphate Dehydrogenase Deficiency - diagnosis; Hemoglobinopathies - blood; Hemoglobinopathies - diagnosis; Humans; Infant, Newborn; Male; Neonatal Screening; Spain; Spain
• ISSN: 0025-7753

The prevalence of hemoglobinopathies and glucose-6-phosphate dehidrogenase (G6PD) deficiency in the Catalan neonatal population is increasing due to immigration. Coinheritance of more than a single RBC genetic defect is becoming more frequent and diagnostic pitfalls are also increasing. We intended to demonstrate the need to perform an early diagnosis of sickle cell disease (SCD) by means of neonatal screening, to establish the prevalence of SCD associated with alpha thalassemia and G6PD deficiency and to identify genotypes associated with sickle cell disease and G6PD deficiency. 4,020 blood samples from newborns were screened. For the screening of hemoglobinopathies the high performance liquid chromatography method was used and for G6PD deficiency the fluorescent spot test was employed. We studied the association between betaS gene and alpha thalassaemia del-3.7 Kb. SCD and G6PD deficiency genotypes were established. Prevalence of SCD in population at risk was 1/475 newborns. Prevalence of G6PD deficiency in population at risk was 1/43, and in autochthonous population was 1/527 newborns. In all the cases, sickle hemoglobin was confirmed by ARMS (amplification refractory mutation system). Association between betaS gene and alpha thalassaemia del-3.7 Kb was found in 32.2% of the samples, and an association between betaS gene and G6PD deficiency was observed in 7% of the samples. This study confirms the high prevalence of SCD and G6PD deficiency in population at risk as well as their genetic and clinical heterogeneity. The study of genotype/phenotype relationships allows a better knowledge of molecular mechanism and is useful to establish suitable criteria of diagnosis.