Hemoglobin Hope (alpha 2 beta 2(136-gly-asp))-S disease: clinical and biochemical studies.

Abstract

Abstract Hemoglobin Hope ( α 2 β 2 136-gly-asp ) was found in a family in which genes for hemoglobins S and C were also present. Heterozygous individuals with hemoglobin Hope were normal both clinically and hematologically. Doubly heterozygous patients with hemoglobins Hope and S had mild hemolytic anemia but lacked the findings characteristic of the more severe sickling hemoglobinopathies. Hemolysates containing hemoglobin Hope revealed an unstable hemoglobin when incubated at 37 °C. in isopropanol buffers. Chromatography of preincubation samples, postincubation supernate, and precipitate showed loss of the β Hope -chain during incubation and its presence in the precipitate. The mechanism of hemolysis in hemoglobin Hope-S disease may be related to the instability of hemoglobin Hope and its intracellular precipitation. Because hemoglobin Hope has an electrophoretic mobility similar to that of hemoglobin A at alkaline pH, individuals having hemoglobin Hope-S disease may be confused with those having the sickle-cell trait.