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

DILAN ALBARAWI; JAFFAR NOURI JAFFAR ALALSAIDISSA; NASIR AL-ALLAWI

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

Abstract

https://doi.org/10.31386/dmj.2017.11.1

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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