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

Abstract excerpt

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...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Glucosephosphate Dehydrogenase
• Share to Glucosephosphate Dehydrogenase Deficiency