Article
Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections.
Blood - 1 Aug 2002
van Bruggen Robin, Bautista José M, Petropoulou Theoni, de Boer Martin, van Zwieten Rob, Gómez-Gallego Felíx, Belohradsky Bernd H, Hartwig Nico G, Stevens David, Mason Philip J, Roos Dirk
Abstract excerpt
In this study the blood cells of 4 male patients from 2 unrelated families with chronic nonspherocytic anemia and recurrent bacterial infections were investigated. The activity of glucose-6- phosphate dehydrogenase (G6PD) in the red blood cells and in the granulocytes of these patients was below detection level. Moreover, their granulocytes displayed a decreased respiratory burst upon activation. Sequencing of...
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