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. 1971 Nov;50(11):2395–2402. doi: 10.1172/JCI106738

Hemoglobin Louisville (β42 (CD1) Phe→Leu): an unstable variant causing mild hemolytic anemia

Marie M Keeling 1,2,3, Lynn L Ogden 1,2,3, Ruth N Wrightstone 1,2,3, J B Wilson 1,2,3, Cecelia A Reynolds 1,2,3, Janice L Kitchens 1,2,3, T H J Huisman 1,2,3
PMCID: PMC292182  PMID: 5096522

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.

Oxygen equilibrium studies of total hemolysate from one Hb Louisville heterozygote indicated a decreased oxygen affinity, a marked decrease in heme-heme interaction, and a normal Bohr effect. Studies with isolated Hb Louisville were not made because it was not possible to separate the variant from normal Hb A.

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Selected References

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