Page 146 - Ebook-Book JCMS 2025

Cord Blood Screening of Common SPTB Mutations and Their
Association with the Development of Neonatal Jaundice
Kritiya Rattanaseksan, Noppawan Tungbuppha, Prathana Kongurai, Kanuengnit Emrat, Nongnuch Sirachainan,
Pharuhad Pongmee, Duantida Songdej*
Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University
Background: Objectives: Methods: *Corresponding Author E-mail: duantida.songdej@gmail.com
Abstract
Background: Hereditary elliptocytosis caused by heterozygosity of three common SPTB
mutations (cSPTB-HE), namely SPTB Providence (c.6055T>C), SPTB Buffalo (c.6074T>G),
and SPTB Chiang Mai (c.6224A>G), is the most prevalent form of red blood cell
membranopathy in Thailand. While older individuals with SPTB-HE become asymptomatic,
they frequently experience neonatal jaundice at birth.
This study aimed to identify the regional prevalence of SPTB-HE through cord blood
screening and explore its association with developing neonatal jaundice.
We conducted a cross-sectional study on all neonates born at Ramathibodi Hospital from
March to November 2024. Residual cord blood samples from routine Glucose-6-Phosphate
Dehydrogenase (G6PD) deficiency screening were subjected to identification of the
three common SPTB mutations using a recently developed molecular method with rapid
turn-around time. Clinical data involving neonatal jaundice development were obtained by
reviewing medical records.
Results: Conclusions: A total of 1,505 neonates with a mean (SD) gestational age of 37.5 (2.3) weeks were
enrolled. Thirteen neonates were identified as cSPTB-HE (SPTB Providence: n=6; SPTB
Buffalo: n=4; SPTB Chiang Mai: n=3), resulting in its prevalence of 0.86%. cSPTB-HE
comprised four percent (9/228) of all neonates with jaundice requiring phototherapy. A
significantly higher proportion of cSPTB-HE (69%) compared to non-cSPTB-HE neonates
(15%) necessitated phototherapy treatment. Multiple logistic regression analyses revealed
heterozygous common SPTB mutations as a substantial risk (adjusted risk ratio of 5.01,
95%CI: 2.56-9.79, p<0.001) for significant jaundice. The median (min-max) onset of
jaundice [30 (14-73) hours], the mean (SD) highest bilirubin level [13.0 (4.7) mg/dL], and
the median (min-max) duration of phototherapy [1 (1-10) days] in cSPTB-HE neonates were
comparable to those of neonates with G6PD deficiency.
cSPTB-HE poses a significant risk of developing neonatal jaundice and contributes to
a noticeable proportion of Thai neonates with jaundice requiring treatment. Screening for
common SPTB mutations can be recommended as a part of jaundice work-up, particularly
in areas with high prevalence, for genetic counseling and proper monitoring of neonatal
jaundice.
144 Joint Conference in Medical Sciences 2025