Screening of hereditary elliptocytosis caused by SPTB mutations and identification of its association with significant jaundice among Thai neonates

To explore the prevalence of SPTB mutations causing hereditary elliptocytosis (HE) and their impact on neonatal jaundice in Thai neonates.

Study Design: Cross-sectional study involving molecular screening of cord blood samples from neonates born at Ramathibodi Hospital.
Sample Size: 1505 neonates were enrolled, with clinical data related to neonatal jaundice obtained from medical records.
Mutation Screening: Identified three common SPTB mutations: SPTB Providence, SPTB Buffalo, and SPTB Chiang Mai.

Prevalence of mutated SPTB-causing HE was 0.86%.
Mutated SPTB-causing HE was an independent risk factor for neonatal jaundice requiring phototherapy (risk ratio 5.01).
Mean total bilirubin levels were significantly higher in neonates with mutated SPTB-causing HE compared to those with G6PD deficiency.

The study was conducted at a single hospital, which may limit the generalizability of the findings.
The sample size, while substantial, may not capture all variations in the population.