Pathology and Laboratory Medicine: Hematology

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.

Hematology Tests

  • Hemoglobin Evaluation
  • 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