GENOTYPE-PHENOTYPE ANALYSIS IN HBS-BETA-THALASSEMIA

Genotypes and phenotypes were studied in 31 Turkish HbS-beta-thalassem ia 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 genotyp es associated with beta(0)-thalassemia. Hematological data were evalua ted 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 p atients and the HbF value (p < 0.05). No statistically significant dif ferences were observed between the mean of hematological parameters in beta(+)- and beta(0)-thalassemia patients except for the mean HbF val ue which were 10.7 +/- 6.9 and 15.9 +/- 7.7% in beta(+)- and beta(0)-t halassemia, respectively (p < 0.05), The study indicated that beta-tha lassemia mutations in trans to the HbS mutation do not exert any benef icial effect on the manifestation of the disease.