title: Possible association of 3' UTR +357 A>G, IVS11-nt 93 T>C, c.1311 C>T polymorphism with G6PD deficiency.
abstract: BACKGROUND
  Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked inherited enzymopathic disorder affecting more than 500 million people worldwide. It has so far been linked to 217 distinct genetic variants in the exons and exon-intron boundaries of the G6PD gene, giving rise to a wide range of biochemical heterogeneity and clinical manifestations.
  
  
  OBJECTIVE
  Reports from different settings suggested the association of intronic and other mutations outside the reading frame of the G6PD gene with reduced enzyme activity and presenting clinical symptoms. The present study aimed to investigate any association of other variations apart of the exonic or exonic intronic boundaries in the development of G6PD deficiency.
  
  
  METHODS
  Sixty-seven unrelated Palestinian children admitted to the pediatric hospital with hemolytic crises due to G6PD deficiency were studied.
  
  
  RESULTS
  In our Palestinian cohort of 67 [59 males (M) and 8 females (F)] G6PD-deficient children, previously hospitalized for acute hemolytic anemia due to favism, molecular sequencing of the G6PD gene revealed four cases (3M and 1F) that did not have any of the variants known to cause G6PD deficiency, but the 3' UTR c.*+357A>G (rs1050757) polymorphism in association with IVS 11 (c.1365-13T>C; rs2071429), and c.1311C>T (rs2230037).
  
  
  CONCLUSIONS
  We now provide an additional evidence form Palestinian G6PD-deficient subjects for a possible role of 3' UTR c.*+357 A>G, c.1365-13T>C, and/or c.1311C>T polymorphism for G6PD deficiency, suggesting that not only a single variation in the exonic or exonic intronic boundaries, but also a haplotype of G6PD should considered as a cause for G6PD deficiency.
authors.affiliation: a Biology Department , Al Azhar University-Gaza , Gaza , Palestine.|b Division of Hematology, Department of Internal Medicine , School of Medicine, University of Utah , Salt Lake City , UT , USA.
authors.forename: Mahmoud M
authors.initials: MM
authors.lastname: Sirdah
authors.affiliation: c Department of Medical Laboratory Sciences , Islamic University-Gaza , Gaza , Palestine.
authors.forename: Mohammad E
authors.initials: ME
authors.lastname: Shubair
authors.affiliation: d Palestinian Ministry of Health , Al Nasser Pediatric Hospital , Palestine.
authors.forename: Mustafa S
authors.initials: MS
authors.lastname: Al-Kahlout
authors.affiliation: d Palestinian Ministry of Health , Al Nasser Pediatric Hospital , Palestine.
authors.forename: Jamal M
authors.initials: JM
authors.lastname: Al-Tayeb
authors.affiliation: b Division of Hematology, Department of Internal Medicine , School of Medicine, University of Utah , Salt Lake City , UT , USA.|e Institute for Clinical and Experimental Pathology, ARUP Laboratories , Salt Lake City , UT , USA.
authors.forename: Josef T
authors.initials: JT
authors.lastname: Prchal
authors.affiliation: b Division of Hematology, Department of Internal Medicine , School of Medicine, University of Utah , Salt Lake City , UT , USA.|e Institute for Clinical and Experimental Pathology, ARUP Laboratories , Salt Lake City , UT , USA.
authors.forename: N Scott
authors.initials: NS
authors.lastname: Reading
mesh_terms: D020413:3' Untranslated Regions; D000483:Alleles; D018912:Arabs; D002675:Child, Preschool; D004789:Enzyme Activation; D005091:Exons; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis* / Q000235:genetics*; D006239:Haplotypes; D006461:Hemolysis; D006801:Humans; D007223:Infant; D007438:Introns; D008297:Male; D009154:Mutation; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
chemical_list: D020413:3' Untranslated Regions; D005954:Glucosephosphate Dehydrogenase
keywords: 3′ UTR +357 A>G; Gaza Palestine; Glucose-6-phosphate dehydrogenase (G6PD) deficiency; IVS11-nt 93 T>C; c.1311 C>T; polymorphism