Analysis of Hemoglobinopathies, Hemoglobin Variants and Thalassemias
Monica V. E. Gallivan MD
Hematology, Quest Diagnostics Nichols Institute, Chantilly, VA, USA
Search for more papers by this authorPiero C. Giordano PhD
Clinical biochemical molecular geneticist, Center for Human and Clinical Genetics, Leiden Academic Hospital (LUMC), Leiden, The Netherlands
Search for more papers by this authorMonica V. E. Gallivan MD
Hematology, Quest Diagnostics Nichols Institute, Chantilly, VA, USA
Search for more papers by this authorPiero C. Giordano PhD
Clinical biochemical molecular geneticist, Center for Human and Clinical Genetics, Leiden Academic Hospital (LUMC), Leiden, The Netherlands
Search for more papers by this authorKandice Kottke-Marchant MD, PhD
Pathology & Laboratory Medicine Institute, Cleveland, OH, USA
Department of Pathology, Cleveland Clinic Lerner College of Medicine, Cleveland, OH, USA
Hemostasis and Thrombosis, Department of Clinical Pathology, Cleveland Clinic, Cleveland, OH, USA
Search for more papers by this authorSummary
Hematology laboratories play a major role in the diagnosis of hemoglobinopathies. These disorders encompassing both abnormal hemoglobins and thalassemias are unique among recessive genetic diseases, in that the majority of healthy carriers can be identified, and their genotype predicted, by simple hematologic and biochemical tests. These tests include a CBC, and a screening method to identify and measure normal and abnormal hemoglobin fractions.
While the most commonly used screening methods are electrophoretic, many laboratories are converting to high-performance liquid chromatography (HPLC) or capillary electrophoresis, which combine screening with accurate quantitation of the hemoglobin fractions. Molecular testing is also routinely available. These new technologies increase the complexity of interpretation, as many variants that are silent by routine electrophoresis are identified. In addition genetic test results require correlation with the hematologic and biochemical findings. Consequently, genetic counselors, general practitioners, pediatricians, obstetricians, and hematologists are increasingly turning to laboratorians engaged in the diagnosis of hemoglobinopathies for guidance in test ordering and interpretation.
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