title: Reverse hybridization StripAssay detection of beta-thalassemia mutations in northeast Egypt.
abstract: OBJECTIVE
  beta-Thalassemias are widely distributed in Mediterranean and Middle Eastern countries. Reverse hybridization StripAssay method is reported to be rapid, simple, reproducible and less expensive. The aim of this study is to evaluate reverse hybridization StripAssay method for detection of beta-thalassemia mutations in Egyptian children.
  
  
  METHODS
  Forty children with beta-thalassemia major with mean age of 10.33+/-4.75 years were recruited consecutively from outpatient Hematology Clinic of Mansoura University Children's Hospital. Mutation analysis was performed by the beta-Globin StripAssay MED.
  
  
  RESULTS
  The most frequent mutant alleles detected were; IVS 1.110, IVS 1.1 and IVS 1.6 accounting for 33.75, 27.5 and 18.75% respectively. The detection rate of the used method in our population was 90%.
  
  
  CONCLUSIONS
  beta-globin StripAssay is a fast, easy-to-perform and reliable method for genetic screening of beta-thalassemia patients in Egypt. IVS 1.110, IVS 1.1 and IVS 1.6 are the most frequent mutant alleles with poor phenotype/genotype correlation.
authors.affiliation: Faculty of Medicine, Mansoura University, Mansoura, Egypt.
authors.forename: Othman E
authors.initials: OE
authors.lastname: Soliman
authors.forename: Sohier
authors.initials: S
authors.lastname: Yahia
authors.forename: Amany
authors.initials: A
authors.lastname: Shouma
authors.forename: Hala K
authors.initials: HK
authors.lastname: Shafiek
authors.forename: Ashraf E
authors.initials: AE
authors.lastname: Fouda
authors.forename: Hanan
authors.initials: H
authors.lastname: Azzam
authors.forename: Nashwa K
authors.initials: NK
authors.lastname: Abousamra
authors.forename: Rabab
authors.initials: R
authors.lastname: Mahfouz
authors.forename: Enas F
authors.initials: EF
authors.lastname: Goda
authors.forename: Solafa A
authors.initials: SA
authors.lastname: El-Sharawy
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods*; D004534:Egypt; D005260:Female; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization / Q000379:methods*; D011933:Reagent Kits, Diagnostic; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D011933:Reagent Kits, Diagnostic