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Article

Molecular Diagnosis of Thalassemias and Hemoglobinopathies

2 Mar 2017

Abstract excerpt

OBJECTIVES: To describe the use of molecular diagnostic techniques for patients with hemoglobin disorders. METHODS: A clinical scenario is presented in which molecular diagnosis is important for genetic counseling. Globin disorders, techniques for their diagnosis, and the role of molecular genetic testing in managing patients with these disorders are described in detail. RESULTS: Hemoglobin disorders, including...

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PMID: 28605432
DOI: 10.1093/ajcp/aqx047

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