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Citation Information: J Clin Invest. 1971;50(11):2395-2402. https://doi.org/10.1172/JCI106738.
Abstract
An unstable hemoglobin variant termed Hb Louisville, was found in four members of a Caucasian family, who were suffering from a mild hemolytic anemia. The variant showed a decreased stability upon warming at 65°C and an increased tendency to dissociate in the presence of sulfhydryl group-blocking agents. The structural abnormality was identified as a replacement of phenylalanyl residue in position 42 (CD1) by a leucyl residue. Substitution of this phenylalanyl residue, which participates in the contact with heme, by a nonpolar leucyl residue has apparently less severe consequences than a replacement of the same residue by a polar seryl residue as in Hb Hammersmith.
Authors
Marie M. Keeling, Lynn L. Ogden, Ruth N. Wrightstone, J. B. Wilson, Cecelia A. Reynolds, Janice L. Kitchens, T. H. J. Huisman
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