PMID: 187542Dec 15, 1976

Hereditary hemolytic anemia with erythrocyte pyrimidine 5'-nucleotidase deficiency in Spain. Clinical, biological and familial studies

Human Genetics
J L Vives-CorronsC Rozman

Abstract

We report a hereditary hemolytic anemia associated with a severe erythrocyte pyrimidine 5'-nucleotidase deficiency in a Spanish family of five members in which the parents are first cousins. Both parents exhibited decreased nucleotidase activity without clinical or hematologic abnormalities. Two children (a male and a female) showed severe pyrimidine 5'-nucleotidase deficiency with hemolytic anemia. The remaining child (a male) showed no signs of the disease. The findings strongly suggest an autosomal recessive mode of inheritance in this enzymopathy. This seems to be the first report of pyrimidine 5'-nucleotidase deficiency in Spain.

References

Oct 1, 1974·The Journal of Clinical Investigation·W N ValentineW S Adams
Sep 1, 1965·British Journal of Haematology·S M Lewis, J V Dacie
Mar 1, 1967·British Journal of Haematology·S M Lewis, J V Dacie

Citations

Jan 1, 1990·International Archives of Occupational and Environmental Health·M Ichiba, K Tomokuni
Jul 2, 1979·Clinica Chimica Acta; International Journal of Clinical Chemistry·H A BucA Najman
Jul 2, 1979·Clinica Chimica Acta; International Journal of Clinical Chemistry·H FujiiK Nomura
Dec 8, 1980·Clinica Chimica Acta; International Journal of Clinical Chemistry·Y IshidaA Kibe
May 30, 1983·Clinica Chimica Acta; International Journal of Clinical Chemistry·A HironoS Miwa
Apr 14, 2006·British Journal of Haematology·Alberto ZanellaGiovanna Valentini
Aug 1, 1980·British Journal of Haematology·J D TorranceT Jenkins
Feb 13, 2003·British Journal of Haematology·David C ReesAnthony M Marinaki
Aug 5, 2000·Baillière's Best Practice & Research. Clinical Haematology·J L Vives i Corrons

Related Concepts

Striadyne
Teens
Microangiopathic Hemolytic Anemia
Erythrocytes
Genes, Recessive
Reduced Glutathione
Nucleotidases
Genealogical Tree
Pyrimidine Nucleotides
Ribose-Phosphate Pyrophosphokinase

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