بررسى ارتباط مولكولى نواحى HS1- 3 و 111-HSدرافزايش بيان ژن گاما گلوبين در بيماران مبتلا به تالاسمى اينترمديا

Molecular Analysis of HS-111 and 3" HS1 Variations in p-Thalassemia Intermedia Patients with High Levels of HbF

Objective: To study the possible association between high levels of fetal haemoglobin (HbF) in p-thalassemia intermedia patients and HS-111 and 3*HS1 sequence variations. Materials and Methods: In this study, the 3ʹ HS-1 and HS-111 regions of 30 ft-thalassae- mia intermedia patients (Q>°IQ>°) with high levels of HbF, 21 (^-thalassemia major patients and 40 normal Iranian individuals were analyzed by single-strand conformation polymor­phism (SSCP) and polymerase chain reaction (PCR) sequencing. Results: Two nucleotide variations in 3ʹ HS111 (-21A>G) and 34HS1 (179C>T) were identified. The most frequent sequence variation was 3ʹ HS111 (-21 A) in the intermedia patients and 3ʹHS111 (-21G) in the major thalassemia patients. In contrast to the 3ʹHS1 marker, both 3ʹHS111 A and G variants showed a correlation with each studied group. Conclusion: The HS111 marker in conjunction with other parameters could be used as appropriate genetic markers to discriminate p-thalassemia intermedia patients (P°/P°) with high levels of HbF from P-thalassemia major patients.