Skip to main content
SpringerLink
Log in

G6PD Sendagi: A new glucose-6-phosphate dehydrogenase variant associated with congenital hemolytic anemia

  • Clinical Case Reports
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

A new glucose-6-phosphate dehydrogenase (G6PD) variant associated with chronic nonspherocytic hemolytic anemia was discovered. It was found in a 2-year-old male who had a hemolytic crisis after an upper respiratory tract infection. The enzyme activity of the variant was 8.4% of that of the normal enzyme. The enzymatic characteristics were slower than normal anodal electrophoretic mobility, low Km G6P, normal Km NADP, increased utilization of substrate analogues, high Ki NADPH, decreased heat stability, and an alkaline pH optimum. From these results, this was considered to be a new variant and was designated G6PD Sendagi.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Beutler E (1982) G6PD: Historical perspective and current status. In: Weatherall DJ, Fiorelli G, Gorini S (eds) Advances in red cell biology

  • Beutler E, Mathai CK, Smith JE (1968) Biochemical variants of glucose-6-phosphate dehydrogenase giving rise to congenital nonspherocytic hemolytic disease. Blood 31:131–151

    Google Scholar 

  • Dacie JV, Lewis SM (1975) Practical haematology, 5th edn. Churchill Livingstone, Edinburgh

    Google Scholar 

  • Johnson GJ, Kaplan ME, Beutler E (1977) G6PD Long Prairie: a new glucose-6-phosphate dehydrogenase mutant exhibiting normal sensitivity to inhibition by NADPH and accompanied by nonspherocytic anemia. Blood 49:247–251

    Google Scholar 

  • Mathai CK, Ohno S, Beutler E (1966) Sex-linkage of the glucose-6-phosphate dehydrogenase gene in Equidae. Nature 210:115–117

    Google Scholar 

  • Rattazzi MC, Corash LM, van Zanen GE, Jaffé ER, Piomelli S (1971) G6PD deficiency and chronic hemolysis: Four new mutants—Relationships between clinical symdrome and enzyme kinetics. Blood 38:205–218

    Google Scholar 

  • WHO Scientific Group (1967) Standardization of procedures for the study of glucose-6-phosphate dehydrogenase. WHO Tech Rep Ser 366:1–53

    Google Scholar 

  • Yoshida A (1973) Hemolytic anemia and G6PD deficiency: Physiologic activity, not in vitro activity, of enzyme is related to the severity of genetic disease. Science 179:532–537

    Google Scholar 

  • Yoshida A, Beutler E, Motulsky AG (1971) Human glucose-6-phosphate dehydrogenase variants. Bull WHO 45:243–253

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pathological Pharmacology, Institute of Medical Science, University of Tokyo, 4-6-1, Shirokanedai, Minato-ku, 108, Tokyo, Japan

    T. Morisaki, H. Fujii, S. Takegawa, K. Tani, A. Hirono, T. Takizawa, K. Takahashi & S. Miwa

  2. Department of Pediatrics, Nippon Medical School, 113, Tokyo, Japan

    M. Shinogi & T. Teshirogi

Authors
  1. T. Morisaki
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. H. Fujii
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. S. Takegawa
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. K. Tani
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. A. Hirono
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. T. Takizawa
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. K. Takahashi
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. M. Shinogi
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. T. Teshirogi
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. S. Miwa
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Morisaki, T., Fujii, H., Takegawa, S. et al. G6PD Sendagi: A new glucose-6-phosphate dehydrogenase variant associated with congenital hemolytic anemia. Hum Genet 65, 214–215 (1983). https://doi.org/10.1007/BF00286669

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00286669

Keywords

Search

Navigation