Hexokinase Deficiency in Erythrocytes: A New Variant in 5 Members of a Finnish Family

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Abstract
Fifteen cases of congenital hemolytic anemia have thus far been attributed to hexokinase (HK) deficiency in erythrocytes. Some clinical, biochemical and genetic findings from 5 members of a Finnish family with this deficiency were reported. The proband, a 1 yr old girl, was the only patient with anemia. All subjects had mild or marked reticulocytosis. Red cell ATP levels were at the lower range of normal in all subjects and 2,3-DPG [2,3-diphosphoglycerate] was abnormally low in 1 person. The activities of red cell enzymes, other than HK, were within or above the normal range, respectively. The Km values for glucose and fructose were elevated (ATP normal) in the subjects with HK deficiency. The family may represent heterozygosity of a mutant allele and apparently there is phenotypic variation associated with the HK mutant. The locus might be subject to mutations which lead to a variety of HK variants and to a spectrum of diseases. This point of view is in accordance with the overwhelming variation of reaction kinetics and metabolic effects of this and other reported cases.