Hemoglobin Casper G8 β106 Leu→ Pro: Further Evidence that Hemoglobin Mutations are Not Random
During the past 10 years unstable hemoglobins have been detected and characterized with increasing frequency (Carrel 1 and Lehmann, 1969; Huehns, 1970). This accelerated recognition has resulted in part from greater awareness that hemolytic anemias may result from unstable hemoglobins. In addition, the development and application of relatively simple laboratory tests that will detect chemically unstable hemoglobins such as the Heinz body generation test (Beutler et al, 1955) and the heat denaturation procedure of Grimes and Meisler (1962) have provided rapid methods for confirming the diagnosis. A review of more than 30 different unstable hemoglobins reported to date reveals correlations between clinical severity and chemical alterations (Koler et al, 1972). It would appear that clinical awareness and ease of laboratory diagnos is have reached a point where most unstable hemoglobins which cause severe postnatal hemolytic disease may be detected. With high like lihood of ascertainment and with information about structural changes, insight into mutational events and their impact on protein structure and function can be gained.
KeywordsHemolytic Anemia Hemoglobin Variant Abnormal Hemoglobin Prolyl Residue Chain Mutant
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