Abstract
Molecular methods are used to identify genetic mutations associated with abnormal hemoglobin structure and/or function, commonly referred to as hemoglobinopathies. Mutations associated with hemoglobinopathies are divided into three main categories: (1) qualitative mutations, (2) quantitative mutations, and (3) hereditary persistence of fetal hemoglobin (HPFH). This chapter details the characteristics associated with each disorder as well as clinical presentation, molecular pathogenesis, common laboratory findings, and the molecular methods used to identify these mutations.
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Fodrie, T.Y., Zhang, S., Patel, M., Parks, J.A., Cheng, L. (2013). Molecular Hemoglobinopathies. In: Cheng, L., Zhang, D., Eble, J. (eds) Molecular Genetic Pathology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-4800-6_37
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DOI: https://doi.org/10.1007/978-1-4614-4800-6_37
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