title: Beta-thalassemia alleles in Aegean region of Turkey: effect on clinical severity of disease.
abstract: Beta (beta) globin gene analysis was performed in 54 homozygous beta-thalassemia patients followed up in the Pediatric Hematology Department of Medical School of Ege University. The spectrum of beta-thalassemia alleles and their effect on clinical severity of disease were investigated. Twelve different mutations were determined in our patients. The six most frequent alleles, IVSI-110 (G-A), IVSI-6 (T-C), IVSI-I (G-A), IVSII-745 (C-G), Cd39 (C-T), and FSC8, account for 80.6% of all the disease genes. Eleven percent of the chromosomes could not be identified with the probes used in this study. In 38 patients both of whose beta-thalassemia alleles were identified, the beta-thalassemia alleles were found to be the major determinant of the clinical severity of disease. The clinical progress of disease was also closely related to the degree of iron overload.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.
authors.forename: G
authors.initials: G
authors.lastname: Nişli
authors.forename: K
authors.initials: K
authors.lastname: Kavakli
authors.forename: Y
authors.initials: Y
authors.lastname: Aydinok
authors.forename: S
authors.initials: S
authors.lastname: Oztop
authors.forename: N
authors.initials: N
authors.lastname: Cetingül
mesh_terms: D000293:Adolescent; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D005260:Female; D018740:Genetic Heterogeneity; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D011627:Puberty / Q000235:genetics; D011628:Puberty, Delayed / Q000235:genetics; D014421:Turkey; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins