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Critical Issues: While HbE by itself presents as a mild anemia and a single gene for β -thalassemia is not serious, it remains unexplained why HbE/ β -thalassemia (HbE/ β -thal) is a grave disease with high morbidity and mortality
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Other common names for the CBS gene are: Beta-Thionase CBS_HUMAN HIP4 Methylcysteine Synthase Serine Sulfhydrase CBS Mutation: Upregulation of the Enzyme More than 150 mutations have been identified in the CBS gene that cause homocystinuria, an inherited disorder that keeps the body from processing the essential amino acid methionine
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