IVSII-74 T>G: As harmless as we thought?

Abstract

AbstractBackgroundIVSII-74 T > G is one of the most frequently identified polymorphic sites on the β-globin gene. In our report, we present three cases with low mean corpuscular volume (MCV) value in three and high red blood cell (RBC) value in two of the cases. The objective of this study was to further analyse the reason for condition of three patients, who were referred for the investigation of persistent anemia.Materials and MethodsFollowing the HPLC analyses of Hb migration pattern, direct nucleotide sequencing of α- and β-globin genes was performed for all cases.ResultsThe common finding was the homozygosity for the intronic change, IVSII-74 T > G.ConclusionIn the intersection point of the variations on our patients, we claim a homozygous change at position 74 on the intron II of the β-globin gene alone may be sufficient to cause a β-thalassemia carrier phenotype.