Recommended screening test for pyrimidine 5′-nucleotidase deficiency

INTERNATIONAL COMMITTEE FOR STANDARDIZATION IN HAEMATOLOGY

Authors

  • S. Miwa,

    Chairman, Corresponding author
      Dr S. Miwa, Okinaka Memorial Institute for Medical Research, 2-2-2 Toranomon, Minato-ku, Tokyo 105, Japan.
    Search for more papers by this author
  • L. Luzzafto,

  • R. Rosa,

  • D.E. Paglia,

  • W. Schroter,

  • A. De Flora,

  • H. Fujii,

  • P.G. Board,

  • E. Beutler


Dr S. Miwa, Okinaka Memorial Institute for Medical Research, 2-2-2 Toranomon, Minato-ku, Tokyo 105, Japan.

Abstract

Pyrimidine 5′-nucleotidase (5′-ribonucleotide phosphohydrolase, E.C. 3.1.3.5) (P5N) deficiency is one of the more common causes of hereditary non-spherocytic haemolytic anaemia. This syndrome is characterized by haemolytic anaemia, pronounced basophilic stippling of red cells, and marked increase in red cell pyrimidine-containing nucleotides (Valentine et al. 1974). P5N activity is quantitatively measured by a colorimetric method (Valentine et al. 1974) and a radiometric method (Torrance, West & Beutler 1977). For screening of P5N deficiency, the recommended method is to determine the u.v. absorption of blood extract (Beutler 1984).

Ancillary