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

E. P. Orringer Division of Hematology Departments of Medicine and Laboratory Medicine, University of North Carolina, Chapel Hill, NC, 27514; Veterans Administration Hospital, Augusta, Ga, 30901

A. Felice Laboratory of Protein Chemistry and Comprehensive Sickle Cell Center Department of Cell and Molecular Biology, Medical College of Georgia; Veterans Administration Hospital, Augusta, Ga, 30901

A. Reese Laboratory of Protein Chemistry and Comprehensive Sickle Cell Center Department of Cell and Molecular Biology, Medical College of Georgia; Veterans Administration Hospital, Augusta, Ga, 30901

J. B. Wilson Laboratory of Protein Chemistry and Comprehensive Sickle Cell Center Department of Cell and Molecular Biology, Medical College of Georgia; Veterans Administration Hospital, Augusta, Ga, 30901

H. Lam Laboratory of Protein Chemistry and Comprehensive Sickle Cell Center Department of Cell and Molecular Biology, Medical College of Georgia; Veterans Administration Hospital, Augusta, Ga, 30901

M. E. Gravely Laboratory of Protein Chemistry and Comprehensive Sickle Cell Center Department of Cell and Molecular Biology, Medical College of Georgia; Veterans Administration Hospital, Augusta, Ga, 30901

T. H. J. Huisman Laboratory of Protein Chemistry and Comprehensive Sickle Cell Center Department of Cell and Molecular Biology, Medical College of Georgia; Veterans Administration Hospital, Augusta, Ga, 30901

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Abstract

A second instance of the unstable mutant Hb Nottingham (α;₂β;₂ (FG5) 98 Val→Gly) is reported in a 7-year-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 both an amelioration of his RBC destruction and an acceleration of his rate of growth.

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. In addition as the incubation proceeded, more radioactivity accumulated in the α; chain fraction than in the β; chains (β;^A+β;^N). This observation is presumed secondary to degradation of the unstable β;^N chains.

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

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

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