هموگلوبین Q – ایران و اهمیت استفاده از روش‌های آزمایشگاهی غربالگری مناسب جهت شناسایی آن

Abstractbackground and objectivesusing suitable laboratory methods for the diagnosis of hemoglobinopathies in laboratories not equipped with automatic systems is essential. the correct diagnosis of hemoglobin q-iran (?75asp ? his) is important. casea 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 ? 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.conclusions 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.