Prenatal and postnatal diagnoses of thalassemias and hemoglobinopathies by HPLC

Abstract

Abstract The conventional approach to qualitative and quantitative analyses of hemoglobin (Hb) molecules for the diagnoses of hemoglobinopathies requires a combination of tests. We used an automated HPLC (VARIANT™) system to study α-thalassemia and β-thalassemia syndromes in Thailand. The beta-thalassemia short program is applicable to the diagnosis of α-thalassemia and β-thalassemia disorders, including Hb H, EA Bart’s disease, and EF Bart’s disease, in adults, newborns, and fetuses. The system cannot quantify accurately certain Hb molecules, such as Hb H and Hb Bart’s. The alpha-thalassemia short program was therefore developed and used to quantify Hb Bart’s to detect α-thalassemia genotypes in cord blood. This automated HPLC system is an alternative approach to the diagnosis of complicated thalassemia syndromes in Thailand and Southeast Asia.