Reverse hybridization StripAssay detection of beta-thalassemia mutations in northeast Egypt.
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.
Soliman
Othman E
OE
Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Yahia
Sohier
S
Shouma
Amany
A
Shafiek
Hala K
HK
Fouda
Ashraf E
AE
Azzam
Hanan
H
Abousamra
Nashwa K
NK
Mahfouz
Rabab
R
Goda
Enas F
EF
El-Sharawy
Solafa A
SA
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*
D011933:Reagent Kits, Diagnostic