TY - JOUR AU - DILAN ALBARAWI AU - JAFFAR ALALSAIDISSA AU - NASIR AL-ALLAWI PY - 2018/02/08 Y2 - 2024/03/29 TI - ABSENCE OF SP1 TRANSCRIPTION FACTOR VARIANT IN 102 IRAQI PATIENTS WITH BETA THALASSEMIA INTERMEDIA JF - Duhok Medical Journal JA - DMJ VL - 11 IS - 1 SE - Articles DO - UR - https://dmj.uod.ac/index.php/dmj/article/view/10 AB - https://doi.org/10.31386/dmj.2017.11.1Background: 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 ER -