In 1965, Löhr et al1 described three male subjects belonging to two families in whom erythrocytes, leukocytes, and platelets possessed diminished hexokinase (HK) activity accompanied by abnormal enzyme kinetics. Each had multiple congenital anomalies, panmyelopathy, and chromosomal aberrations characteristic of classic Fanconi's syndrome. Hexokinase deficiency has not been observed in other cases of Fanconi's syndrome. The findings were entirely different from those of subsequently reported cases with congenital, nonspherocytic hemolytic anemia associated only with a specific deficiency of erythrocyte HK. The first patient with the latter syndrome was reported by Valentine et al2 in 1967, with additional cases reported by others.3-5 The present patient is a member of a seventh kindred with hereditary hemolytic anemia due to HK deficiency. Saline suspensions of RBCs freed of leukocytes by filtration through cot ton were assayed for erythrocyte glutathione (GSH), for activity of all enzymes of the anaerobic EmbdenMeyerhof pathway, the two dehydrogenases
GILSANZ F, MEYER E, PAGLIA DE, VALENTINE WN. Congenital Hemolytic Anemia Due to Hexokinase Deficiency. Am J Dis Child. 1978;132(6):636–637. doi:10.1001/archpedi.1978.02120310100023
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