Summary
The aim of this paper is to describe the clinical and hematological characteristics of a 32-year-old woman with concomitant heterozygous pyruvate kinase (PK) and glucose-6-phosphate dehydrogenase (G6PD) deficiencies and severe hemolytic anemia during pregnancy. In 1964, Oski et al. [16] described a family in which a clinically healthy woman was heterozygous for both PK and G6PD deficiencies. To our knowledge, the present case is the first described in which the same condition is associated with hemolysis. A heterozygous condition for both enzymopathies was clearly demonstrated by family study criteria, and all other causes of hemolytic anemia were eliminated. No evidence of genetic relationship between the two disorders was demonstrated. Since late onset of hemolysis in heterozygous PK-deficient women has been observed in association with pregnancy and the molecular characteristics of the concomitant deficient G6PD enzyme were kinetically favorable, partial PK deficiency is suggested as the major cause of hemolysis in this patient.
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Baughan MA, Paglia DE, Schenider AS, Valentine WN (1968) An unusual haematological syndrome with pyruvate-kinase deficiency and thalassaemia minor in two kindreds. Acta Haematol 39: 345–358
Beutler E, Duron O, Kelly BM (1963) Improved method for determination of blood glutathione. J Lab Clin Med 61: 882–883
Beutler E (1978) Hemolytic anemia. In: Disorders of red cell metabolism. Plenum Medical, New York
Beutler E, Forman L (1983) Coexistence of alfa-thalassaemia and a new pyruvate kinase variant: PK Fulkien. Acta Haematol 690: 3–8
Beutler E (1984) Red cell metabolism: a manual of biochemical methods, 3rd edn. Grune & Stratton, New York
Beutler E, Forman L, Rios-Larrain E (1987) Elevated pyruvate kinase activity in patients with hemolytic anemia due to red cell pyruvate “deficiency”. Am J Med 83: 899–904
Blume KG, Arnold H, Lohr GW, Beutler E (1973) Additional diagnostic procedures for the detection of abnormal red cell pyruvate kinase. Clin Chim Acta 43: 443–446
Boivin P, Gadjos A, Lestradet H (1971) Enzymopathies (Fascicule premier). Masson, Paris, pp 190–218
Bossu M, Dacha M, Fornani (1968) Neonatal hemolysis due to transient severity of inherited pyruvate kinase deficiency. Acta Haematol 40: 166–175
Dacie J (1985) The haemolytic anaemias. I. The hereditary haemolytic anaemias, 3rd edn. Churchill Livingstone, Edinburgh
Fairbanks VF, Lampe LT (1968) A tetrazolium-linked cytochemical method for estimation of glucose-6-phosphate dehydrogenase activity in individual erythrocytes: applications in the study of heterozygous for glucose-6-phosphate dehydrogenase deficiency. Blood 31: 589–603
Fung RHP, Keung YK, Chung GSH (1969) Screening of pyruvate kinase deficiency and G6PD deficiency in Chinese newborn in Hong Kong. Arch Dis Child 44: 373–376
Hirono A, Forman L, Beutler E (1968) Enzymatic diagnosis in non-spherocytic hemolytic anemia. Medicine 67: 110–117
Kahn A, Marie J, Galard C, Boivin P (1976) Chronic haemolytic anaemia in two patients heterozygous for erythrocyte pyruvate kinase deficiency. Electrofocusing and immunological studies of erythrocyte and liver pyruvate kinase. Scand J Hematol 16: 250–257
Minakami L, Suzuki C, Saito T, Yoshikawa H (1965) Studies on erythrocyte glycolysis. Determination of the glycolytic intermediates in human erythrocytes. J Biochem 58: 543–549
Oski FA, Nathan DG, Sidel VW, Diamon LK (1964) Extreme hemolysis and red cell distortion in erythrocyte pyruvate kinase deficiency. N Engl J Med 270: 1023–1030
Paglia DE, Valentine WN, Williams JO, Konrad PN (1977) An isoenzyme of erythrocyte pyruvate-kinase (PK-Los Angeles) with impaired kinetics corrected by fructose-1,6-diphosphate. Am J Clin Pathol 68: 229–234
Sachs JR, Wicker DJ, Gilcher RO, Conrad ME, Cohen RJ (1967) PK-deficient hemolytic anemia inherited as an autosomal dominant. Blood 3: 881 (Abstract 58)
Sachs JR, Wicker DJ, Gilcher RO, Conrad ME, Cohen RJ (1968) Familial hemolytic anemia resulting from an abnormal red blood cell pyruvate kinase. J Lab Clin Med 72: 359–362
Valentine WN (1975) Enzyme abnormalities in red cells. Br J Haematol 31 [Suppl]: 11–19
Valentine WN, Tanaka KR, Paglia DE (1985) Hemolytic anemia and erythrocyte enzymopathies. Ann Intern Med 103: 245–257
Van Eys J, Garms P (1971) Pyruvate kinase deficiency hemolytic anemia: a model for correlation of clinical syndrome and biochemical anomalies. Adv Pediatr 18: 203–209
Vives Corrons J Ll, Pujades MA, Colomer D (1988) Eritroenzimopatías congénitas: un modelo de diagnóstico molecular. “Anemias hemolíticas”. Proc XXX Meeting Spanish Society of Haematology (AEHH) pp 29–37
Vives Corrons JLl, Pujades MA, Petit J, Colomer D, Corbella M, Aguilar i Bascompte JLl, Merino A (1989) Chronic nonspherocytic hemolytic anemia (CNSHA) and glucose-6-phosphate dehydrogenase (G6PD) deficiency in a patient with familial amyloidotic polyneuropathy (FAP). Hum Genet 81: 161–164
Volpato S, Vigi V, Cattarozzi G (1968) Nonspherocytic haemolytic anaemia and severe jaundice in a newborn with partial pyruvate kinase deficiency. Acta Paediatr Scand 57: 59–64
WHO Scientific Group (1967) Standardization of procedures for the study of glucose-6-phosphate dehydrogenase. World Health Techn Rep Ser no. 366
Zanella A, Colombo MB, Miniero R, Peroni L, Meloni T, Sirchia G (1988) Erythrocyte pyruvate kinase deficiency: 11 new cases. Br J Haematol 69: 399–404
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Corrons, J.L.V., García, A.M., Sosa, A.M. et al. Heterozygous pyruvate kinase deficiency and severe hemolytic anemia in a pregnant woman with concomitant, glucose-6-phosphate dehydrogenase deficiency. Ann Hematol 62, 190–193 (1991). https://doi.org/10.1007/BF01703148
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DOI: https://doi.org/10.1007/BF01703148