Hemoglobin Q-Iran and the importance of using suitable laboratory screening methods-Case report

Using suitable laboratory methods for the diagnosis of hemoglobinopathies in laboratories not equipped with automatic systems is essential. The correct diagnosis of hemoglobin Q-Iran (α75Asp → His) is important. Case: A 33-year-old woman was referred to the national reference globin chain biosynthesis laboratory. The patient''s globin chains chromatogram indicated an unknown peak after α globin chain peak. Direct conventional sequencing revealed single G to C missense mutation in the -globin gene. The genetic analysis led to the identification of a rare hemoglobin variant. Medical diagnosis laboratories not equipped with modern automatic systems must run solubility test and hemoglobin electrophoresis on citrate agar and cellulose acetate for definite detection of Hb Q-Iran; otherwise، it can be regarded as a cause of misdiagnosis with hemoglobin S.