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Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Gaza Strip Palestinians.

Show simple item record Sirdah, Mahmoud Reading, N. Scott Vankayalapati, Hariprasad Perkins, Sherrie L. Shubair, Mohammad E. Aboud, Lina N. Roper, David Prchal, Josef T. 2019-05-20T15:57:12Z 2019-05-20T15:57:12Z 2012
dc.identifier.citation Blood Cells Mol Dis. 2012 Oct 15-Dec 15;49(3-4):152-8. doi: 10.1016/j.bcmd.2012.06.003 en_US
dc.description.abstract Abstract BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency, affecting more than 500 million people worldwide, is one of the most common of inherited disorders. There are 186 G6PD mutations published, with mutational clustering within defined ethnic/racial groups. However comprehensive molecular characterization of ethnically associated G6PD mutants and their clinical implications are lacking. DESIGN AND METHODS: Eighty unrelated Palestinian children hospitalized for hemolysis were studied. G6PD activity was determined by quantitative spectrophotometry and G6PD mutations were analyzed by sequencing of gDNA. RESULTS: 65 of 80 children (81%) had G6PD deficiency, accounting for most of the hemolytic disease in this age group. G6PD Mediterranean(c.563T), African G6PD A-(c.202A/c.376G), and G6PD Cairo(c.404C) were common with relative allele frequencies of 0.33 [1], 0.26, and 0.18 respectively. Two other variants were discovered, G6PD Beverly Hills(c.1160A) mutation, and a novel G6PD missense mutation c.536G>A (Ser179Asn), designated G6PD "Gaza". Three samples exhibited enzyme deficiency without detectable exonic or exon/intron boundary mutations. CONCLUSION: G6PD deficiency accounts for the majority of diagnoses for hemolysis in Palestinian children (81%), providing support for newborn G6PD deficiency screening programs. We report unanticipated molecular heterogeneity of G6PD variants among Gaza Strip Palestinians greater than reported in neighboring Arab populations. We report a high proportion of affected children with G6PD Cairo, which was observed previously in only a single Egyptian, and a novel mutation G6PD "Gaza". en_US
dc.language.iso en_US en_US
dc.publisher Elsevier en_US
dc.subject Red cell enzymes G6PD Mediterranean G6PD Cairo G6PD African variant Novel G6PD variant- Gaza en_US
dc.title Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Gaza Strip Palestinians. en_US
dc.type Article en_US

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