G6PD deficiency assessment and genotyping
G6PD deficiency
G6PD DEFICIENCY
At the two Indonesian sites, patients with an FST result indicating G6PD deficiency had their enzyme activities quantified by spectrophotometry (Trinity Biotech, Ireland), processed within 7 days of sampling [Patient’s G6PDd status was confirmed by genotyping for local variants known to be associated with reduced enzyme activity. DNA from these Indonesian samples was extracted using QIAamp DNA mini kit (Qiagen, Germany) and genotyped first by PCR/RFLP for regional variants including Viangchan, Chatham, Mahidol, Vanua Lava, Orissa, Kaiping, Union, and Coimbra. If these variants were not detected, samples were sequenced from exons 3−13, as described previously [