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Arch Dis Child. 1993 November; 69(5 Spec No): 523–524.
PMCID: PMC1029598

Fetal anaemia due to pyruvate kinase deficiency.


Pyruvate kinase deficiency was diagnosed in an infant by umbilical vessel sampling at 30 weeks' gestation. Although three previous hydropic siblings had been stillborn or died in the neonatal period, this infant survived with transfusion dependent haemolytic anaemia. Prompt fetal diagnosis of pyruvate kinase deficiency is feasible and allows better management of hydrops fetalis due to this disorder.

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Selected References

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  • Lestas AN, Rodeck CH, White JM. Normal activities of glycolytic enzymes in the fetal erythrocytes. Br J Haematol. 1982 Mar;50(3):439–444. [PubMed]
  • Kanno H, Fujii H, Hirono A, Omine M, Miwa S. Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia. Blood. 1992 Mar 1;79(5):1347–1350. [PubMed]
  • Neubauer B, Lakomek M, Winkler H, Parke M, Hofferbert S, Schröter W. Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency. Blood. 1991 May 1;77(9):1871–1875. [PubMed]
  • Machin GA. Hydrops revisited: literature review of 1,414 cases published in the 1980s. Am J Med Genet. 1989 Nov;34(3):366–390. [PubMed]
  • Ravindranath Y, Paglia DE, Warrier I, Valentine W, Nakatani M, Brockway RA. Glucose phosphate isomerase deficiency as a cause of hydrops fetalis. N Engl J Med. 1987 Jan 29;316(5):258–261. [PubMed]

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