Severe hemolysis with normal blood count in a glucose-6-phosphate dehydrogenase deficient neonate

Pyruvate kinase deficiency as a cause of extreme hyperbilirubinemia in neonates from a polygamist community

“…For neonates with early jaundice, in addition to making the underlying diagnosis, considerable effort should be placed on bilirubin management, so as to avoid bilirubin neurotoxicity. [14][15][16][17] We speculate that the American Academy of Pediatrics goal of preventing cases of kernicterus 7 can be furthered by improving awareness of PK deficiency and other causes of neonatal hemolytic jaundice. Diagnosing hemolytic diseases such as PK deficiency, hereditary spherocytosis and G6PD deficiency during the first days after birth can facilitate anticipatory, aggressive, bilirubin management.…”

“…[13][14][15][16] Indeed, kernicterus has been reported in neonates who had hyperbilirubinemia associated with PK deficiency. 17 When hemolytic jaundice is diagnosed, such patients can generally be managed successfully using phototherapy or sometimes exchange transfusion.…”

Israel guidelines for the management of neonatal hyperbilirubinemia and prevention of kernicterus

“…27 G-6-PD-deficient neonates may have acute and severe hemolysis, which is not manifest by decreased hemoglobin or hematocrit or reticulocytosis. 28 Bedside determination of end tidal carbon monoxide is no longer available. It may therefore be difficult to determine definitively whether or not increased hemolysis is present.…”

“…G-6-PD deficiency is associated with acute hemolytic episodes that may result in extreme hyperbilirubinemia 28,29 and is a major contributing factor to bilirubin encephalopathy. 5,9,10,14,30,31 In Israel, G-6-PD deficiency is found in a high percentage of Sephardic Jews whose families immigrated from the Middle East and Asia Minor.…”

“…21,22 In similarity with other affected population groups, in Sephardic Jews, G-6-PD deficiency increases the incidence of neonatal hyperbilirubinemia 23 and may be associated with sudden, unpredictable and exponential increases in the STB. 28,32,33 The committee recommends approaching this problem in one of two ways:…”