Neonatal haemoglobinopathy screening in Spain.

Area of Science:

• Hematology
• Public Health
• Genetics

Background:

• Increasing African immigration in Spain leads to a higher prevalence of variant haemoglobins.
• Haemoglobinopathy prevalence varies significantly across Spain's 19 regions, with 13 having over 1% residents of African origin.
• Autochthonous cases of sickle cell disease (SCD) and sickle cell trait are rare in Spain.

Purpose of the Study:

• To analyze the current prevalence and geographical distribution of haemoglobinopathies, particularly SCD, in Spain.
• To evaluate the effectiveness and necessity of neonatal screening programs for SCD across different Spanish regions.
• To provide recommendations for optimal SCD screening strategies based on regional birth rates and prevalence.

Main Methods:

• Review of existing studies on SCD prevalence across Spain's geographical regions.
• Analysis of data from the Spanish Society of Paediatric Haematology's SCD registry.
• Comparison of neonatal screening program implementation and policies across autonomous communities.

Main Results:

• Overall haemoglobinopathy prevalence ranges from 0.14% to 0.94% in screened populations, with SCD prevalence varying from 0.001% to 0.03%.
• SCD prevalence has tripled in the last four years according to the Spanish Society of Paediatric Haematology registry.
• Only two Spanish Communities (Extremadura and Madrid) have official neonatal SCD screening; Catalonia lacks a universal program despite high impact.

Conclusions:

• Universal neonatal screening for SCD is recommended for regions with high birth rates and prevalence, such as Catalonia and Madrid.
• Targeted screening policies are more appropriate for regions with low birth rates and SCD prevalence.
• Standardizing and expanding neonatal screening programs is crucial to address the growing burden of SCD in Spain.