“Spleen Baby”: A Case Presentation of Pyruvate Kinase Deficiency in an Amish Neonate

Pyruvate kinase deficiency (PKD) is an autosomal recessive trait in which there is a lack of the enzyme pyruvate kinase. Because of this lack of pyruvate kinase, red blood cells are broken down more freely, thereby causing hemolytic anemia. The degree to which the hemolysis occurs varies from mild-to-severe to life-threatening neonatal anemia and kernicterus necessitating an exchange transfusion. The purpose of this article is to introduce the reader to PKD through a case presentation of severe hyperbilirubinemia necessitating the need for an exchange transfusion. This article also includes the prevalence, clinical features and diagnosis, treatment, and nursing considerations in caring for this type of infant.

To view the abstract click here.

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