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

This study identifies the prevalence of SPTB mutations causing hereditary elliptocytosis (HE) in Thai neonates.

Hereditary elliptocytosis is the most common red blood cell membrane disorder in Thailand, primarily caused by specific SPTB mutations.

Parameter	Value
Prevalence of HE	0.86%
Risk Ratio for Jaundice	5.01 (95% CI 2.56 to 9.79)
Mean Total Bilirubin Levels	Higher than G6PD deficiency (p=0.009 to 0.049)

HE caused by SPTB mutations is prevalent in 0.86% of Thai neonates.
SPTB mutations are an independent risk factor for neonatal jaundice requiring phototherapy.
Neonates with SPTB mutations had significantly higher bilirubin levels than those with G6PD deficiency.
Most affected neonates did not exhibit anemia or clinical diagnosis at birth.
Coinheritance of SPTB mutations and G6PD deficiency may worsen jaundice severity.

The findings indicate that screening for SPTB mutations in neonates could enhance monitoring of jaundice.

The study highlights the association between SPTB mutations and neonatal jaundice in Thai neonates.

Clinical Report: Molecular Screening for SPTB Mutations in Hereditary Elliptocytosis