Reference Work Entry

Textbook of Clinical Pediatrics

pp 2981-2983

Other Red Cell Enzymopathies


Congenital nonspherocytic hemolytic anemia was described for the first time by Dacie in 1952. In addition to a variable degree of hemolytic anemia, these disorders are characterized by the absence of spherocytes in the peripheral blood and normal osmotic fragility of the Red Blood Cells (RBCs). The term “Congenital NonSpherocytic Hemolytic Anemia” (CNSHA) is used to describe a heterogeneous group of congenital hemolytic anemias that results from the inherited deficiency of RBC glycolytic enzymes of the Embden-Meyerhof or pentose phosphate metabolic pathway. As these are anaerobic pathways, in which glucose is catabolized to pyruvate and lactate and thus produce Adenosine TriPhosphate (ATP), deficiency of any enzyme in this pathway results in decreased level or complete absence of ATP in the RBCs. ATP plays a major role in maintaining the red blood cells’ membrane integrity. Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency, the most common red blood cells enzy ...

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