PMID: 10916681Aug 5, 2000

Chronic non-spherocytic haemolytic anaemia due to congenital pyrimidine 5' nucleotidase deficiency: 25 years later

Baillière's Best Practice & Research. Clinical Haematology
J L Vives i Corrons

Abstract

In 1972, Valentine et al described, under the name of 'non-spherocytic haemolytic anaemia, high red cell ATP and ribose phosphate pyrophosphokinase (RPK; EC 2.7.6.1) deficiency', an obscure congenital haemolytic anaemia with the characteristic feature of red blood cell basophilic stippling. The activity of Embden-Meyerhof pathway and hexose monophosphate shunt were normal, and the concentrations of reduced glutathione and of ATP were raised 2 SD above the normal mean. The low values of RPK also encountered were considered to be an epiphenomenon rather than a causative defect. One year later, further studies performed in two new kindreds with the same haemolytic disorder associated with persistent basophilic stippling were described under the name of 'haemolytic disorders associated with increased ATP'. In 1974, two new and important observations contributed to the final identification of the disease: the patients' red blood cells (RBCs) contained large amounts of nucleotides (pyrimidine nucleotides), and in all cases they were deficient in a hitherto unrecognized enzyme called pyrimidine 5' nucleotidase (P5N). In conclusion, all these cases were formerly referred to as 'high ATP syndromes' because of the erroneous assumption th...Continue Reading

References

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Citations

Jul 9, 2004·British Journal of Haematology·Hitoshi KannoHisaichi Fujii
Aug 22, 2003·British Journal of Haematology·Paola BianchiAlberto Zanella
Apr 14, 2006·British Journal of Haematology·Alberto ZanellaGiovanna Valentini
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Jul 7, 2016·Proteomics. Clinical Applications·Benjamin A BarasaMonique Slijper
Jul 13, 2017·Blood Research·Yonggoo KimMyungshin Kim
Jun 19, 2018·Frontiers in Physiology·Rick HuisjesRichard van Wijk

Related Concepts

Anemia, Hemolytic, Congenital Nonspherocytic
Erythrocytes
5'-NUCLEOTIDASE
Laboratory Diagnosis

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