Article
Screening of hereditary elliptocytosis caused by SPTB mutations and identification of its association with significant jaundice among Thai neonates.
BMJ paediatrics open - 30 Jun 2026
Rattanaseksan Kritiya, Tangbubpha Noppawan, Kadegasem Praguywan, Khlangtan Tanyanee, Kongurai Prathana, Emrat Kanuengnit, Sirachainan Nongnuch, Pongmee Pharuhad, Songdej Duantida
Abstract excerpt
BACKGROUND: Hereditary elliptocytosis (HE) caused by heterozygosity of three common SPTB mutations, 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. Here, we explored the prevalence of the mutated SPTB-causing HE using molecular screening and demonstrated its impact on the development and severity...
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