Thirty-five males with severe (Class 1) G6PD deficiency (c.637G>T) in a North American family of European ancestry.

Timothy M Bahr, Archana M Agarwal, Jessica A Meznarich, Wende L Prince, Tirzah W P Wait, Josef T Prchal, Robert D Christensen

Blood cells, molecules & diseases 2021 Dec

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In North America, jaundiced neonates are not usually tested for G6PD deficiency if the family is of European ancestry. However, we describe such a family where ≥35 males have had severe (Class I) G6PD deficiency. Many of the jaundiced neonates did not have this diagnosis considered, at least three of whom developed bilirubin neurotoxicity. Over seven generations 35 affected males were identified. Three developed signs of kernicterus spectrum disorder; three had exchange transfusions for hyperbilirubinemia; and nine received one or more blood transfusions during childhood. Copyright © 2021 Elsevier Inc. All rights reserved.

Citation

Timothy M Bahr, Archana M Agarwal, Jessica A Meznarich, Wende L Prince, Tirzah W P Wait, Josef T Prchal, Robert D Christensen. Thirty-five males with severe (Class 1) G6PD deficiency (c.637G>T) in a North American family of European ancestry. Blood cells, molecules & diseases. 2021 Dec;92:102625