PURPOSE OF REVIEW:
As in adults and older children, anemia in newborn infants can be the result of erythropoietic failure, hemorrhage, or hemolysis. When hemolysis is the prime consideration, it can be challenging for physicians caring for neonates to choose from the wide variety of available diagnostic tests. This review describes the authors’ opinions regarding rational, consistent, and cost-effective means of making an exact diagnosis of a neonatal hemolytic condition.
Two recent advances in the diagnosis of neonatal nonimmune hemolytic disorders are highlighted in this review: introduction of flow cytometry-based Eosin-5-maleimide (EMA) uptake as a screening test to identify RBC membrane defects and next-generation sequencing (NGS)-based panels to uncover exact mutations causing hemolysis.
The availability of newer tools such as EMA and NGS to diagnose specific hemolytic conditions, which might otherwise remain unknown, enables neonatal practitioners not only to identify the exact cause of hemolysis but also to discover novel mutations that can be implicated in the cause of neonatal hemolytic processes.