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

作者：Hamid Mohammad; Karimipoor Morteza; Zeinali Sirous; Akbari Mohammad Taghi; Kokabi Leila; Mahjoubi Frouzandeh^*

来源：Yakhteh, 2010, 11(4): 418-423.

• beta-Thalassemia
• Fetal Haemoglobin
• Single-Strand Confirmation Polymorphism

Objective: To study the possible association between high levels of fetal haemoglobin (HbF) in beta-thalassemia intermedia patients and HS-111 and 3'HS1 sequence variations.
Materials and Methods: In this study, the 3'HS-1 and HS-111 regions of 30 beta-thalassaemia intermedia patients (beta degrees/beta degrees) with high levels of HbF, 21 beta-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 3'HS111 (-21A>G) and 3'HS1 (179C>T) were identified. The most frequent sequence variation was 3'HS111 (-21A) in the intermedia patients and 3'HS111 (-21G) in the major thalassemia patients. In contrast to the 3'HS1 marker, both 3'HS111 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 beta-thalassemia intermedia patients (beta degrees/beta degrees) with high levels of HbF from beta-thalassemia major patients.

• 出版日期2010