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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 erythrocyte morphology, clinical course, and computational analysis, we submit that each of the 3 variants is a probable pathogenic cause of the hereditary hemolytic conditions in these patients. We hope other pediatric practitioners caring for neonates with what appears to be idiopathic severe neonatal hyperbilirubinemia will look for spectrin variants as a possible cause, because additional cases with these specific variants along with this clinical phenotype are needed to confirm our postulate that these 3 cases are indeed pathogenic mutations. [ABSTRACT FROM AUTHOR]

The article presents a case study of 22-year-old white G2P1 female who perceived decreased fetal movements and new-onset abdominal tenseness and discusses the conditions of her new born baby. Examination showed polyhydramnios with hydrops including pericardial and bilateral pleural effusions. Double-volume exchange transfusion was performed to reduce the leukocyte count for blood viscosity. After treatment no evidence of leukemia or transient myeloproliferative disorder TMD was found.