ABSENCE OF SP1 TRANSCRIPTION FACTOR VARIANT IN 102 IRAQI PATIENTS WITH BETA THALASSEMIA INTERMEDIA
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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