The role of molecular diagnostic testing for hemoglobinopathies and thalassemias

Hemoglobin disorders are among the most common genetic diseases worldwide. Molecular diagnosis is helpful in cases where the diagnosis is uncertain and for genetic counseling. Protein-based diagnostic techniques are frequently adequate for initial diagnosis. Molecular genetic testing is pursued in some cases, particularly when a definitive diagnosis is not possible and especially for the purpose of assessing genetic risk for couples wanting to have children. The expertise available in the clinical hematology laboratory is essential for the diagnosis of patients with hemoglobin abnormalities. Initial diagnoses are made using protein-based techniques such as electrophoresis and chromatography. Based on these findings, genetic risk to an individual's offspring can be assessed. In the setting of beta-thalassemia and other beta-globin disorders, coincident alpha-thalassemia may be difficult to diagnose, which can have potentially serious consequences. In addition, unusual forms of beta-thalassemia caused by deletions in the beta-globin locus cannot be definitively characterized using standard techniques. Molecular diagnostic testing has an important role in the diagnosis of hemoglobin disorders and is important in the setting of genetic counseling. Molecular testing also has a role in prenatal diagnosis to identify fetuses affected by severe hemoglobinopathies and thalassemias.

Automated summary

Hemoglobin disorders are prevalent worldwide and can be diagnosed through molecular genetic testing. Protein-based techniques are initially used for diagnosis, and molecular testing is pursued when a definitive diagnosis is not possible. Molecular diagnostic testing plays an important role in assessing genetic risk and in prenatal diagnosis for severe hemoglobinopathies and thalassemias.