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31 P NMR spectroscopy of erythrocytes in congenital hemolytic anemias: Detection of heterogeneous erythrocyte populations and quantification of intracellular 2,3‐diphosphoglycerate
Author(s) -
Labotka Richard J.,
Honig George R.
Publication year - 1980
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830090107
Subject(s) - diphosphoglycerate , thalassemia , pyruvate kinase deficiency , intracellular , heterozygote advantage , chemistry , population , hemoglobinopathy , nuclear magnetic resonance spectroscopy , red blood cell , medicine , hemolytic anemia , pyruvate kinase , biochemistry , metabolism , glycolysis , genotype , hemoglobin , gene , stereochemistry , environmental health
Phosphorus‐31 nuclear magnetic resonance (NMR) spectra were determined from intact erythrocytes of a patient with homozygous β‐thalassemia and from three patients with pyruvate kinase (PK) deficiency. The intracellular 2,3‐diphosphoglycerate‐(2,3‐DPG) were mildly elevated in the thalassemia patient and in PK heterozygotes, and were markedly elevated in the PK‐deficient homozygotes. The 2,3‐DPG chemical shifts in the patients' NMR spectra were consistently positioned at a higher magnetic field than normal. When the patients with thalassemia or PK deficiency were transfused with blood from a normal donor, or when a patient's erythrocytes were mixed with normal erythrocytes, two distinct sets of 2,3‐DPG resonances appeared in the resulting spectra, allowing the simultaneous quantification of the 2,3‐DPG levels in each erythrocyte population. The ability of NMR to detect heterogeneous cell populations may be useful for the diagnosis of congenital hemolytic anemias in patients who have been transfused.