Hemoglobinopathies are genetic defects that result in one of the chains of the hemoglobin molecule. These are usually single-gene disorders, such as sickle cell disease, and they are usually inherited as autosomal codominant traits. There are over 2000 known hemoglobin variants and identification of these variants is important to a patient’s health. It is important to be able to structurally identify and quantitate these variants in order to detect abnormal hemoglobin quickly and precisely. It is necessary to reduce sample complexity to avoid exceeding the analytical limitations of the mass spectrometer. This poster will discuss the use of an automated sample preparation system coupled to mass spectrometry to quickly and reproducibly identify differences between normal and abnormal hemoglobin.
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