Novel studies on a "silent" high affinity mutant hemoglobin (San Diego, beta 109 Val replaced by Met). 1981

D R Harkness, and C K Yu, and M Goldberg, and T B Bradley

A patient with a "silent" mutant hemoglobin characterized by high oxygen affinity and erythrocytosis is described. A novel approach was used to identify the mutant chain. Functionally active alpha and beta chains were prepared from hemolysates of the patient and a normal control. Hybrid tetramers of patient's beta chain were prepared. Functional studies revealed that the patient's beta chains had a higher oxygen affinity (P50, 1.1 torr) than normal beta chains (P50, 1.7 torr) and the hybrid containing the patient's beta chains had a P50 similar to the patient's "stripped" hemolysate. It was assumed therefore that the mutation was in the beta chain; structural studies using cyanogen bromide cleavage revealed that the patient had Hb San Diego, beta 109 Val replaced by Met, and that the patient's cells contained approximately 50 percent mutant hemoglobin.

UI MeSH Term Description Entries
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010100 Oxygen An element with atomic symbol O, atomic number 8, and atomic weight [15.99903; 15.99977]. It is the most abundant element on earth and essential for respiration. Dioxygen,Oxygen-16,Oxygen 16
D010108 Oxyhemoglobins A compound formed by the combination of hemoglobin and oxygen. It is a complex in which the oxygen is bound directly to the iron without causing a change from the ferrous to the ferric state. Oxycobalt Hemoglobin,Oxycobalthemoglobin,Oxyhemoglobin,Hemoglobin, Oxycobalt
D011086 Polycythemia An increase in the total red cell mass of the blood. (Dorland, 27th ed) Erythrocytosis,Erythrocytoses,Polycythemias
D005260 Female Females
D005914 Globins A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure. Globin
D006455 Hemoglobins, Abnormal Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains. Abnormal Hemoglobins
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006863 Hydrogen-Ion Concentration The normality of a solution with respect to HYDROGEN ions; H+. It is related to acidity measurements in most cases by pH pH,Concentration, Hydrogen-Ion,Concentrations, Hydrogen-Ion,Hydrogen Ion Concentration,Hydrogen-Ion Concentrations

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