• DILAN ALBARAWI * Assistant lecturer, Scientific Research center, College of Science, University of Duhok, Kurdistan Region, Iraq
  • JAFFAR NOURI JAFFAR ALALSAIDISSA Lecture, Department of Pathology, College of Medicine, University of Duhok, Kurdistan Region, Iraq
  • NASIR AL-ALLAWI Professor, Department of Pathology and Scientific Research center, College of Medicine, University of Duhok, Kurdistan Region, Iraq
Keywords: Thalassemia Intermedia, Sp1 variant, ARMS-PCR



Background: Several genetic mechanisms contribute to the phenotype of β- thalassemia intermedia. Many studies have focused on identifying these mechanisms; however, they did not explain all such cases, leaving a lot of area for further research. Recently a candidate gene (Sp1 transcription factor variant) has been identified as a possible contributor to amelioration of phenotype in β-thalassemia intermedia.

Subject and Method: To determine the relative frequency of Sp1 variant and its contribution to amelioration of phenotype in Iraqi patients with β-thalassemia intermedia. A total of 102 molecularly characterized Iraqi patients with β-thalassemia intermedia attending Ibn-Albaladi hereditary anemia center in Baghdad-Iraq,  had their records evaluated and their DNA screened for the Sp1 transcription factor variant (R170Q) using amplification refractory mutation systems-polymerase chain reaction.

Results: None of the 102 enrolled patients with β-thalassemia intermedia carried this mutation, and all showed the wild type Sp1 (R170Q). 

Conclusions: The Sp1 transcription factor variant does not appear to contribute to amelioration of the β-thalassemia phenotype in Iraqi enrolled patients. A search for other factors that maybe contributory is warranted


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How to Cite
ALBARAWI, D., ALALSAIDISSA, J., & AL-ALLAWI, N. (2018). ABSENCE OF SP1 TRANSCRIPTION FACTOR VARIANT IN 102 IRAQI PATIENTS WITH BETA THALASSEMIA INTERMEDIA. Duhok Medical Journal, 11(1), 1-7. Retrieved from https://dmj.uod.ac/index.php/dmj/article/view/10