title: Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Gaza Strip Palestinians.
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.
  
  
  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.
  
  
  CONCLUSIONS
  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".
authors: ARUP Laboratories and University of Utah School of Medicine, Salt Lake City, UT 84132-2408, USA. sirdah@alazhar.edu.ps
authors: Mahmoud
authors: M
authors: Sirdah
authors: N Scott
authors: NS
authors: Reading
authors: Hariprasad
authors: H
authors: Vankayalapati
authors: Sherrie L
authors: SL
authors: Perkins
authors: Mohammad E
authors: ME
authors: Shubair
authors: Lina
authors: L
authors: Aboud
authors: David
authors: D
authors: Roper
authors: Josef T
authors: JT
authors: Prchal
mesh_terms: D000483:Alleles; D018912:Arabs; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D005787:Gene Frequency; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006461:Hemolysis; D006801:Humans; D007438:Introns; D008297:Male; D008877:Middle East; D008969:Molecular Sequence Data; D009154:Mutation; D011110:Polymorphism, Genetic
chemical_list: D005954:Glucosephosphate Dehydrogenase