Hb Nottingham (α;2β;2 (FG5) 98 VAL→GLY) in a Caucasian Male: Clinical and Biosynthetic Studies

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Abstract
A 2nd instance of the unstable mutant Hb Nottingham (.alpha.2.beta.2 (FG5) 98 Val .fwdarw. Gly) is reported in a 7 yr old boy. Because of splenomegaly, cholelithiasis and frequent episodes of abdominal pain, he underwent a splenectomy and cholecystectomy at age 6. The surgery resulted in an amelioration of his RBC [red blood cell] destruction and an acceleration of his growth rate. Biosynthetic studies were carried out using reticulocytes obtained from his peripheral blood. These analyses disclosed an exceedingly high specific activity ratio for Hb N/Hb A. As the incubation proceeded, more radioactivity accumulated in the .alpha. chain fraction than in the .beta. chains (.beta.A + .beta.N). This observation is presumed secondary to degradation of the unstable .beta.N chains.