The most common and medically important Hb variants include HbS ( Cao and Kan 2012 Lettre 2012 Schechter and Elion 2012 Serjeant and Rodgers 2012 Williams and Weatherall 2012), HbC ( Cao and Kan 2012 Lettre 2012 Schechter and Elion 2012 Serjeant and Rodgers 2012 Williams and Weatherall 2012), HbE (see the sections on Selected Variants that Illustrate Important Aspects of Hemoglobin Biology and Variants that Affect Multiple Hemoglobin Functions see also Musallam et al. Naturally occurring Hb mutations cause a range of biochemical abnormalities, some of which produce clinically significant symptoms. Heinz bodies, decreased cooperativity, decreased Bohr effect, decreased oxygen affinityįor a full listing of hemoglobin variants, see The Globin Gene Server ( Hardison et al. Unstable, Heinz bodies, sickle cell phenotype, decreased oxygen affinity Hemolytic anemia, cyanosis, splenomegaly, splenic sequestration Normal, but hypersensitive to oxidative stressĭecreased cooperativity, increased oxygen affinity, increased CO affinity Hemolytic anemia, cyanosis, splenomegaly, reticulocytosis Increased oxygen affinity, decreased cooperativity Heinz body hemolytic anemia, dominant inclusion body thalassemiaĭecreased cooperativity, decreased Bohr effect Other biochemical and laboratory findingsĭecreased cooperativity, increased oxygen affinityĪltered α1β1 interface, disrupted AHSP bindingĬomigrates with HbA 1C, rapidly degraded α chains
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