Reverse hybridization StripAssay detection of β-thalassemia mutations in northeast Egypt

Abstract

Aim: β-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 β-thalassemia mutations in Egyptian children.

Subjects and methods: Forty children with β-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 β-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%.

Conclusion: β-globin StripAssay is a fast, easy-to-perform and reliable method for genetic screening of β-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.

Keywords:

• BETA-THALASSEMIAS
• REVERSE HYBRIDIZATION STRIPASSAY
• EGYPTIAN CHILDREN