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- W3036969308 abstract "Hemoglobin (Hb) is the iron-containing protein within red blood cells, responsible for oxygen transport and delivery. Functional Hb is a tetramer consisting of four globular protein subunits organized as two heterodimers. Proportions of these subunits change over time during embryogenesis. Hb abnormalities may be categorized as structural hemoglobinopathies or thalassemias. Structural hemoglobinopathies occur when there is a mutation in a monomer, leading to a structurally abnormal Hb subunit. Thalassemias occur when there is a quantitative decrease in the overall amount of an Hb subunit. Both abnormalities may have significant clinical implications. Detection of Hb abnormalities relies heavily on the clinical laboratory. A variety of biochemical and molecular techniques are applied for characterization of hemoglobinopathies. Diagnostic testing for Hb disorders is frequently performed in the evaluation of anemia and microcytosis, pulmonary hypertension, and preoperative anesthesia evaluation. Testing is more recently increasing in volume due to implementation of prenatal and population-based screening programs." @default.
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- W3036969308 date "2020-01-01" @default.
- W3036969308 modified "2023-09-25" @default.
- W3036969308 title "Hemoglobin variant detection" @default.
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- W3036969308 doi "https://doi.org/10.1016/b978-0-12-815499-1.00024-7" @default.
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