Physiologic and Genetic Alterations in Human Red Cell DPGM

Abstract

Erythrocyte 2,3-diphosphoglycerate levels are determined principally by a single molecule which has both diphosphoglycerate mutase (DPGM) and diphosphoglycerate phosphatase activities. An antiserum containing precipitating antibodies against this molecule was used to measure its amount in red cells from normal controls, from subjects with hypothyroidism or hyperthyroidism, and from a Japanese proband who has hemolytic anemia attributed to heterozygosity for a genetic variant. The amount of DPGM in normal adult erythrocytes is 0.98 ± 0.014 mg/gm Hb. Slightly increased amounts are found in normal cord blood and in subjects with hyperthyroidism. Hypothyroid subjects have a significantly decreased concentration of DPGM, 0.82 ± 0.06 mg/gm Hb. Restoration of euthyroid status during treatment results in a return of DPGM amounts to normal. The red cells of the Japanese subject contained 0.67 mg/gm Hb of DPGM as measured by immunoprecipitation.