Action taken upon the detection of sickle cell trait (heterozygous hemoglobinopathy S) in newborn screening in Spain.

INTRODUCTION

Since 2021, sickle cell disease (SCD) has been included in all 17 neonatal screening programmes in Spain. The carrier state for hemoglobin S (HbS) is also detected collaterally; although clinically benign, it appears to increase the risk of certain complications, with genetic counselling being the main reason for its recognition. The Red Cell Disorders Working Group of the Spanish Society of Pediatric Hematology and Oncology (SEHOP) conducted this study to examine current practices in the management of its detection.

MATERIALS AND

METHODS

A survey was carried out among representatives from the reference or follow-up clinical units in each autonomous community.

RESULTS

In all programmes, HbS and hemoglobin C (HbC) carrier status is reported, and most also report other structural variants (94.1%). High-performance liquid chromatography (HPLC) is the most frequently used screening method (64.7%). In most regions, testing is repeated on a second sample (82.4%), generally obtained by venepuncture and analysed by capillary electrophoresis. Families are mainly informed by the pediatrician or hematologist in the follow-up unit (76.5%). None of the regions have implemented strategies to recall carrier status at reproductive age.

CONCLUSIONS

Families are informed of HbS/HbC carrier status, but the approach is variable and requires review and harmonization. Obtaining a second venous sample in carriers is considered excessive according to international consensus.