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Article

Three Novel Spectrin Variants in Jaundiced Neonates.

Clinical pediatrics - 1 Jan 2018

Christensen Robert D, Agarwal Archana M, Yaish Hassan M, Reading N Scott, O'Brien Elizabeth A, Prchal Josef T

Abstract excerpt

Various mutations in the genes encoding alpha spectrin (SPTA1) or beta spectrin (SPTB) are known to cause erythrocyte membrane disorders, sometimes associated with severe neonatal jaundice and anemia. We used a next-generation sequencing panel to evaluate 3 unrelated neonates who had puzzling cases of nonimmune hemolytic jaundice. In each case, we identified novel mutations in either SPTA1 or SPTB. Correlating...

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Topics

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Share to Elliptocytosis, Hereditary
Share to Infant, Newborn
Share to Jaundice, Neonatal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Spectrin

Share to Spherocytosis, Hereditary

Source

Identifiers

PMID: 28090778
DOI: 10.1177/0009922816687326

Genes

SPTA1
SPTB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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