" /> Hemoglobin C Disease - CISMeF





Preferred Label : Hemoglobin C Disease;

NCIt definition : An autosomal recessive hemoglobinopathy with a mild clinical course. Most patients are asymptomatic. When symptoms appear, they include mild hemolytic anemia and occasionally jaundice.;

Alternative definition : NICHD: An autosomal recessive disorder resulting from the production of hemoglobin C, secondary to an amino acid substitution of lysine for glutamic acid in the sixth position of the beta chain (E6K), and characterized by mild hemolytic anemia and occasionally jaundice, though most patients are asymptomatic.;

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30/07/2025


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