title: β-Globin Mutations in Egyptian Patients With β-Thalassemia.
abstract: β-thalassemia is a common hereditary disorder, particularly in Middle Eastern countries. More than 200 mutations in the β globin gene have been reported; most are point mutations in functionally important regions (HBB; OMIM #141900)). The spectrum of mutations varies significantly between different geographical regions; only a few common mutations of β-globin cause β-thalassemia in each population. The aim of this study was to determine the spectrum of mutations that cause β-thalassemia in the North Coast of Egypt and to investigate their correlation with the phenotypic severity of β-thalassemia. We carried out our study with a total of 47 Egyptian patients (25 male and 22 female) confirmed to have β-thalassemia. Evaluation of β-thalassemia mutations revealed the presence of 10 β-globin mutations. The most frequently encountered mutations were intronic: IVS 1.6 [T>C] (27.66%) and IVS 1.110 [G>A] (22.35%), followed by IVS 2.848 [C>A], IVS 1.1 (G>A), and IVS 2.745 [C>G]. We observed the exonic and promoter mutations less frequently. A homozygous mutation was found in 24 patients (51%) and compound heterozygous mutations were found in 13 patients (28%). However, in 9 patients (19%), we identified only 1 mutation. In 1 patient (2%), we detected no mutation. The detection rate of the method that we used in our population was 88% (83 of the tested 94 alleles). The results we obtained did not reveal any correlation between genotype and phenotype among patients with β-thalassemia.
authors.affiliation: Departments of Human Genetics and.
authors.forename: Ammar D
authors.initials: AD
authors.lastname: Elmezayen
authors.affiliation: Departments of Human Genetics and.
authors.forename: Samia M
authors.initials: SM
authors.lastname: Kotb
authors.affiliation: Hematology, Medical Research Institute, Alexandria University, Alexandria, Egypt.
authors.forename: Nadia A
authors.initials: NA
authors.lastname: Sadek
authors.affiliation: Departments of Human Genetics and drebtesamabdalla@yahoo.com.
authors.forename: Ebtesam M
authors.initials: EM
authors.lastname: Abdalla
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D004534:Egypt; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D055544:beta-Globins
keywords: Egyptians; IVS 1.6 [T>C]; intronic; mutation spectrum; β-globin gene; β-thalassemia