Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. A probable X-chromosome-linked syndrome.

Abstract

A hereditary hemolytic anemia associated with a deficiency in the activity of phosphoglycerate kinase in erythrocytes and leukocytes was demonstrated in a large Chinese kindred. Two male children were most severely affected: five male relatives in the maternal portion of the pedigree who died in early childhood may have had the same disorder. The mother and maternal grandmother of the propositus had milder hemolysis and a moderate decrease in erythrocyte phosphoglycerate kinase activity, and the mother of his affected maternal third cousin was normal by all functions measured. Enzyme activities in the erythrocytes of 19 other blood relatives, including all paternal relatives, were normal. The family history and the results of bio-chemical examinations were interpreted as indicating that mosaicism for phosphoglycerate kinase activity may be present in the erythrocytes of the affected females and that severely affected males are hemizygotes. The data are consistent with the hypothesis that the deficiency is X-chromosome linked.