PMID: 7372343Jan 1, 1980Paper

Hereditary erythrocyte pyruvate-kinase (PK) deficiency and chronic hemolytic anemia: clinical, genetic and molecular studies in six new Spanish patients

Human Genetics
J L Vives-CorronsA Kahn

Abstract

Clinical, familial and biochemical studies from six unrelated Spanish patients with hereditary hemolytic anemia and erythrocyte pyruvate-kinase (PK) deficiency are described. A remarkable molecular heterogeneity of mutant PK variants involving kinetic properties, molecular stability or electrophoretic mobility is demonstrated. In two patients whose PK variants showed abnormal electrophoretic pattern and strongly aberrant kinetic properties, a chronic hemolytic anemia associated with several other clinical manifestations of chronic hemolysis occurred. In patients whose PK variants showed less abnormal kinetic and electrophoretic characteristics, there was only moderate or mild hemolytic anemia. One patient's PK variant with no obvious kinetic or electrophoretic alterations, showed a markedly decreased heat stability with severe diminution of antigenic concentration of the enzyme. This patient presented a spectacular clinical and hematological improvement after splenectomy. The purpose of the present study is to describe six new PK variants of Spanish origin. In addition, an attempt is made to find relationships between molecular abnormalities of mutant PK variants and the severity of hemolytic anemia, in these patients. The poss...Continue Reading

References

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Citations

Feb 5, 1982·Clinica Chimica Acta; International Journal of Clinical Chemistry·G E StaalM Petermans
May 1, 1991·Annals of Hematology·M De BraekeleerE de Medicis
Jul 1, 1988·British Journal of Haematology·A ZanellaG Sirchia
Dec 1, 1987·British Journal of Haematology·A N LestasA J Bellingham
Aug 3, 2001·Blood Cells, Molecules & Diseases·A ZanellaM Sampietro
Oct 1, 1984·Australian and New Zealand Journal of Medicine·M B Van der Weyden
Jan 1, 1981·American Journal of Hematology·Y IshidaK Yamato
Sep 1, 1992·Clinical Genetics·A CasadoD Carrascosa

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