Good practice guidelines for laboratory investigation of hemoglobinopathies

A review of the Quality Management Program-Laboratory Services (QMP-LS) hemoglobin fraction quantitation/hemoglobinopathy investigation surveys revealed recurrent errors in diagnosis of carrier genotypes for serious hemoglobinopathies. To address these concerns, QMP-LS developed guidelines for laboratory investigation of hemoglobinopathy syndromes. The guidelines are based on current practice in the province of Ontario, expert opinion in the field, and a review of recent literature. They include an overview of the clinical significance of the hemoglobinopathies, the indications for a hemoglobinopathy investigation, key components of a thorough laboratory hemoglobinopathy investigation, interpretation of investigation results, diagnosis of rare hemoglobin variants, and indications for DNA investigation of hemoglobinopathies. The guidelines present various tables and figures outlining mean cell volume reference intervals, recommended hemoglobinopathy investigative techniques, recommendations for further investigation of abnormal findings, and algorithms for interpretation of the various laboratory hemoglobinopathy investigative techniques. The guidelines are intended for use in the processing of specimens when a clinical or laboratory physician has ordered a hemoglobinopathy investigation (hemoglobin electrophoresis).