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 Health℠ 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