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RED‐CELL METABOLISM IN CONGENITAL HÆMOLYTIC ANÆMIAS
Author(s) -
DE GRUCHY G. C.
Publication year - 1963
Publication title -
australasian annals of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 0571-9283
DOI - 10.1111/imj.1963.12.1.6
Subject(s) - glycolysis , hereditary spherocytosis , red cell , spherocytosis , pyruvate kinase , biology , hexokinase , metabolism , dehydrogenase , enzyme , biochemistry , spleen , medicine , immunology , genetics , splenectomy
SUMMARY The integrity and normal survival of the red cell are dependent on ATP (energy) production from glycolysis. Destruction at the end of normal life span is considered due to metabolic exhaustion. In the congenital hæmolytic anæmias defects of glycolysis are present. The defects demonstrated vary in the different disorders. The premature destruction of the cells is related, at least in part, to the defective energy production. In non‐spherocytic congenital hæmolytic anæmia Type II, there is defective glycolysis and ATP production due to a specific enzyme defect, namely, pyruvate kinase deficiency. Non‐spherocytic congenital hæmolytic anæmia Type I appears to be biochemically heterogeneous; glucose‐6 phosphate dehydrogenase (G‐6PD) is deficient in some cases and normal in others. Deficiency of ATP has been demonstrated in our cases, but the mechanism of the defect is unknown. In hereditary spherocytosis two abnormalities exist, of shape and of metabolism. The abnormality of glycolytic metabolism is obvious in vitro only on incubation. It is possible that passage through the spleen makes this latent defect overt and “conditions” the cells for their premature destruction. In hereditary elliptocytosis, preliminary evidence suggests that the defect is similar in some respects to that of hereditary spherocytosis.