Hemoglobinopathies are a diverse group of common, inherited disorders of hemoglobin, resulting in either the production of structurally abnormal globin subunits or reduced production of structurally normal globin subunits. Children’s Medical Center offers screening and diagnostic tests for the evaluation of patients with disorders involving hemoglobin including Sickle Cell Disease, thalassemia and unknown hemoglobin variants.
High Performance Liquid Chromatography/Electrophoresis
Beta Globin (HBB) Gene Sequencing for thalassemia disease severity prognostication and definitive identification of beta globin mutations
Red Blood Cell Pit Count Assay for evaluation of splenic function