Non-spherocytic haemolytic anaemia in mother and son associated with hexokinase deficiency.
The case history, laboratory findings and properties of the enzyme in a patient with hexokinase deficiency are reported. The mother had a haemolytic disorder of similar severity. In these cases the expression of the disease in both mother and son suggests a dominant mode of inheritance. This family further illustrates the necessity of taking the reticulocyte level into account when interpreting red cell enzyme levels.
D000328:Adult; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000201:enzymology / Q000235:genetics*; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006593:Hexokinase / Q000097:blood / Q000172:deficiency*; D006801:Humans; D008297:Male; D012156:Reticulocytes / Q000201:enzymology
D006593:Hexokinase