title: Genotype-phenotype analysis in HbS-beta-thalassemia.
abstract: Genotypes and phenotypes were studied in 31 Turkish HbS-beta-thalassemia patients. In 19 patients the beta-thalassemia mutations were beta+ and in 12 the beta 0 phenotype. The IVSI-110 mutation was found in 45% of the patients. IVSI-1, beta 39, IVSII-1 and FSC8 are the genotypes associated with beta 0-thalassemia. Hematological data were evaluated at the time of diagnosis and 4 years after diagnosis. The mean HbF value was 13 +/- 7.8% at diagnosis and 9.7 +/- 7.8% 4 years later. A significant negative correlation was observed between the age of the patients and the HbF value (p < 0.05). No statistically significant differences were observed between the mean of hematological parameters in beta(+)- and beta 0-thalassemia patients except for the mean HbF value which were 10.7 +/- 6.9 and 15.9 +/- 7.7% in beta(+)- and beta 0-thalassemia, respectively (p < 0.05). The study indicated that beta-thalassemia mutations in trans to the HbS mutation do not exert any beneficial effect on the manifestation of the disease.
authors.affiliation: School of Medicine, Department of Pediatrics, Hacettepe University, Ankara, Turkey.
authors.forename: C
authors.initials: C
authors.lastname: Altay
authors.forename: C
authors.initials: C
authors.lastname: Oner
authors.forename: R
authors.initials: R
authors.lastname: Oner
authors.forename: L
authors.initials: L
authors.lastname: Mesci
authors.forename: H
authors.initials: H
authors.lastname: Balkan
authors.forename: S
authors.initials: S
authors.lastname: Tüzmen
authors.forename: A N
authors.initials: AN
authors.lastname: Başak
authors.forename: F
authors.initials: F
authors.lastname: Gümrük
authors.forename: A
authors.initials: A
authors.lastname: Gürgey
mesh_terms: D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000097:blood / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006451:Hemoglobin, Sickle / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D014421:Turkey; D017086:beta-Thalassemia / Q000097:blood / Q000150:complications / Q000235:genetics*
chemical_list: D006451:Hemoglobin, Sickle