Diminished synthesis of an alpha chain mutant, hemoglobin I (α16 lys → glu)

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Abstract
In patients heterozygous for abnormal hemoglobins there is usually less than 50% of the mutant hemoglobin present in peripheral blood. The synthetic rates of α-chain mutants compared to αA have not been reported to date. In this study the production of αA- and αI-chains has been measured in peripheral blood and bone marrow of two patients with approximately 30% hemoglobin I, an α-chain abnormality (α16 lys → glu). The results suggest that the decreased amount of αI compared to αA is due solely to diminished biosynthesis of the αI-chains. The relative rates of synthesis of αI- and αA-chains are similar in both nucleated red cells and reticulocytes indicating that no change occurs during erythroid cell maturation which preferentially affects either αI or αA production.