title: Molecular Characterization of Glucose-6-phosphate Dehydrogenase Deficiency in Families from the Republic of Macedonia and Genotype-phenotype Correlation.
abstract: BACKGROUND
  Glucose-6-phospahte dehydrogenase deficiency (G6PD) is one of the most common inherited disorders affecting around 400 million people worldwide. Molecular analysis of the G6PD gene identified more than 140 distinct mutations, the majority being single base missense mutations. G6PD Mediterranean is the most common variant found in populations of the Mediterranean area.
  
  
  OBJECTIVE
  The aim of our study was to perform molecular characterization of G6PD deficiency in families from the Republic of Macedonia and correlate the findings to disease phenotype.
  
  
  METHODS
  Six patients and seven other family members were selected for genetic characterization, the selection procedure involved clinical evaluation and G6PD quantitative testing. All patients were first screened for the Mediterranean mutation, and subsequently for the Seattle mutation. Mutations were detected using PCR amplification and appropriate restriction endonuclease cleavage.
  
  
  RESULTS
  Four hemizygote and 3 heterozygous carriers for G6PD Mediterranean were detected. All G6PD deficient patients from this group showed clinical picture of hemolysis, and in 66.6% neonatal jaundice was confirmed based on history data. To our knowledge, this is the first study concerned with molecular aspects of the G6PD deficiency in R. Macedonia.
  
  
  CONCLUSIONS
  This study represents a step towards a more comprehensive genetic evaluation in our population and better understanding of the health issues involved.
authors.affiliation: University Pediatric Clinic, Medical Faculty, University "St. Cyril and Methodius", Skopje, Republic of Macedonia.
authors.forename: Anet Papazovska
authors.initials: AP
authors.lastname: Cherepnalkovski
authors.affiliation: Department of Medical Biology, School of Medicine, University of Split, Croatia.
authors.forename: Tatijana
authors.initials: T
authors.lastname: Zemunik
authors.affiliation: University Pediatric Clinic, Medical Faculty, University "St. Cyril and Methodius", Skopje, Republic of Macedonia.
authors.forename: Sofijanka
authors.initials: S
authors.lastname: Glamocanin
authors.affiliation: University Pediatric Clinic, Medical Faculty, University "St. Cyril and Methodius", Skopje, Republic of Macedonia.
authors.forename: Katica
authors.initials: K
authors.lastname: Piperkova
authors.affiliation: Department of Medical Biology, School of Medicine, University of Split, Croatia.
authors.forename: Ivana
authors.initials: I
authors.lastname: Gunjaca
authors.affiliation: University Pediatric Clinic, Medical Faculty, University "St. Cyril and Methodius", Skopje, Republic of Macedonia.
authors.forename: Svetlana
authors.initials: S
authors.lastname: Kocheva
authors.affiliation: University Pediatric Clinic, Medical Faculty, University "St. Cyril and Methodius", Skopje, Republic of Macedonia.
authors.forename: Biljana Coneska
authors.initials: BC
authors.lastname: Jovanova
authors.affiliation: University Hospital Split and School of Medicine, University of Split, Croatia.
authors.forename: Vjekoslav
authors.initials: V
authors.lastname: Krzelj
mesh_terms: D005260:Female; D056726:Genetic Association Studies; D005954:Glucosephosphate Dehydrogenase / Q000097:blood / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000453:epidemiology / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics; D016133:Polymerase Chain Reaction; D018843:Republic of North Macedonia / Q000453:epidemiology
chemical_list: D005954:Glucosephosphate Dehydrogenase
keywords: G6PD deficiency; Republic of Macedonia; genotype-phenotype correlation; molecular characterization