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Non‐spherocytic Haemolytic Anaemia in Mother and Son Associated with Hexokinase Deficiency

1980; Wiley; Volume: 46; Issue: 4 Linguagem: Inglês

10.1111/j.1365-2141.1980.tb06010.x

1365-2141

Peter F. J. Newman, Alison Muir, A. C. Parker,

Blood groups and transfusion

S ummary . 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.