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[Neonatal screening of sickle cell disease in the Balearic Islands Autonomous Community. Pilot study in anonymous
H López-Escribano1, M Vila Vidal, A Barceló Bennassar
1Servicio de Análisis Clínicos, Laboratorio Neonatal, Hospital Universitario Son Dureta, Baleares, España.
Insights
Sickle cell disease (SCD) and sickle cell trait are present in the Balearic Islands. This study supports including SCD screening in newborn programs.
Area of Science:
- Genetics and наследственные заболевания
- Neonatal screening
- Hematology
Context:
- Sickle cell disease (SCD) is an inherited blood disorder caused by sickle haemoglobin (HbS).
- Increased immigration raises concerns about hemoglobinopathies in at-risk populations.
- Neonatal screening programs are crucial for early detection of genetic disorders.
Purpose:
- To determine the incidence of SCD and other structural hemoglobinopathies in the neonatal population of the Balearic Islands.
- To evaluate the need for integrating SCD and hemoglobinopathy screening into the existing newborn screening program.
- To establish baseline data for public health initiatives related to SCD.
Summary:
- High-performance liquid chromatography (HPLC) was used to analyze neonatal blood spots.
- The study identified an overall incidence of 9.9 per 1000 specimens for hemoglobin variants.
- Specific incidences were 1/6756 for SCD (FS) and 1/199 for sickle cell trait (FAS).
Impact:
- The findings highlight the prevalence of SCD and sickle cell trait in the region.
- Results provide evidence for the necessity of implementing a neonatal screening program for SCD.
- Early detection through screening can lead to timely interventions and improved patient outcomes.
Introduction:
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.
Material And Methods:
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.
Results:
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).
Conclusion:
These results confirm the need to include screening for SCD and other haemoglobinopathies in our neonatal screening program.
