Abstract
Erythrocyte deformability was determined in more than 500 clinical samples, and was found to be elevated in conditions in which fetal-like red cells are produced: aplastic anemia (3/3 cases), myelodysplastic syndromes, polycythemias, sickle cell anemia during treatment with hydroxyurea, paroxysmal nocturnal hemoglobinuria, and recovery from B12 deficiency. Elevated deformability was observed in neonatal erythrocytes, and during recovery from transient erythroblastopenia of childhood, when fetal-like red cells are known to be produced. Increased deformability appears to be a feature of fetal and fetal-like red cells. Forty-eight cases of enzymatically verified glucose-6-phosphate (G-6-PD) deficiency were also examined. Thirty out of 32 G-6-PDA- individuals, including both heterozygotes and hemizygotes, exhibited increased deformability during the steady state. In contrast, G-6-PDMed hemizygotes had normal deformability. Increased deformability was also found in G-6-PDHuron (n = 3), G-6-PDWayne (n = 4), triose phosphate isomerase deficiency (n = 2), and pyruvate kinase deficiency (n = 2). An elevated osmoscan was found in more than 90% of female G-6-PD heterozygotes, affording a simple screening test for heterozygotes. Deformability remained high during hemolytic episodes, when older enzyme deficient cells are removed from the circulation. In four cases of G-6-PD deficiency with normal deformability, evidence for co-existing hereditary spherocytosis was found. The combination of conditions with opposing effects on deformability resulted in nearly normal deformability. Because increased red cell deformability is a feature of fetal erythrocytes, these results suggest that the red cells in many cases of glycolytic enzyme deficiency are fetal-like.
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Abbreviations
- DI:
-
deformability index
- G-6-PD:
-
glucose-6-phosphate dehydrogenase
- HbF:
-
fetal Hb
- HS:
-
hereditary spherocytosis
- HU:
-
hydroxyurea
- MCHC:
-
mean corpuscular Hb concentration
- MCV:
-
mean corpuscular volume
- mOsm:
-
osmolality
- TEC:
-
transient erythroblastopenia of childhood
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Supported by the Georgie Ginopolis Fund, Children's Hospital of Michigan.
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Johnson, R., Panchoosingh, H., Goyette, G. et al. Increased Erythrocyte Deformability in Fetal Erythropoiesis and in Erythrocytes Deficient in Glucose-6-Phosphate Dehydrogenase and Other Glycolytic Enzymes. Pediatr Res 45, 106–113 (1999). https://doi.org/10.1203/00006450-199901000-00018
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DOI: https://doi.org/10.1203/00006450-199901000-00018
