Neonatal screening of sickle cell disease in the Balearic Islands Autonomous Community. Pilot study in anonymous unrelated population

Sickle cell disease (SCD) describes a group of inherited disorders caused by the presence of the sickle haemoglobin (HbS) which results from a point mutation affecting codon 6 of the beta globin chain (beta codon 6, Glu 6 Val). The pathophysiology involves polymerisation of HbS under low oxygen cond...

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Bibliographic Details
Published in:Anales de pediatría (Barcelona, Spain : 2003) Spain : 2003), 2009-05, Vol.70 (5), p.429-433
Main Authors: López-Escribano, H, Vila Vidal, M, Barceló Bennassar, A, Riesco Prieto, M, Ayllón Gatnau, O
Format: Article
Language:Spanish
Subjects:
Anemia, Sickle Cell - diagnosis
Anemia, Sickle Cell - epidemiology
Humans
Infant, Newborn
Neonatal Screening
Pilot Projects
Prevalence
Spain - epidemiology
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Summary:Sickle cell disease (SCD) describes a group of inherited disorders caused by the presence of the sickle haemoglobin (HbS) which results from a point mutation affecting codon 6 of the beta globin chain (beta codon 6, Glu 6 Val). The pathophysiology involves polymerisation of HbS under low oxygen conditions causing vaso-occlusion and chronic haemolysis and anaemia. Due to increase in immigrants within our population and the majority of this group being a risk population for different haemoglobinopathies, the aim of our study is to determine the incidence of SCD and others structural haemoglobinopathies in the neonatal population of the Balearic Islands Autonomous Community, by means of an unrelated pilot study and determine the need to include this pathology in a newborn screening program. The study was performed with the same blood spot specimen dried on filter paper used for congenital hypothyroidism, phenylketonuria and cystic fibrosis screening. High-performance liquid chromatography (HPLC), using the VARIANTs (Biorad) automated system, was used to detect variants haemoglobin variants. The overall incidence was 9.9 per 1000 specimens. The incidence of SCD was 1/6756 (FS) and the incidence of sickle cell traits was 1/199 (FAS). These results confirm the need to include screening for SCD and other haemoglobinopathies in our neonatal screening program.
ISSN:1695-4033
1695-9531
DOI:10.1016/j.anpedi.2008.12.009