: thalassemia is a type of hereditary autosomal recessive disorder in which the existing genetic defect reduce the amount of production of the main chains of globin.the reduction of these chains causes the formation of abnormal molecules of hemoglobin and triggers thalassemia. mutations in genes called modifier gene can cause or affect thalassemia. klf1 is one of these modifier gene that was investigated in this study
Methods
36 iranian thalassemia minor patients due to hematologic symptoms included a2>3,mcv<75 , mch<25 were selected and after dna extraction they were analyzed for all econs of klf1 gene by pcr and sequencing method.
Results
From 36 patients, one patient with hematologic symptoms included a2:4.1, mcv:73.2, mch:24 had pathogenic missense mutation c.544t>c in exon 2 that converted amino acid phenylalanine to amino acid leucine. the frequency of this mutation was 1.38% in this study while its frequency was reported 5% in the world.
Conclusion
According to this study mutations in modifier genes can cause or affect thalassemia. so in thalassemia patients without finding mutations in beta or alpha globin genes, investigation of modifier gene can be useful in understanding the reason of clinical and hematological symptoms of thalassemia.
