Skip to main content
Log in

A novel missense mutation in glucose-6-phosphate dehydrogenase gene causing chronic nonspherocytic hemolytic anemia in an Indian family

  • Letter To The Editor
  • Published:
Annals of Hematology Aims and scope Submit manuscript

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

Access this article

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

Instant access to the full article PDF.

Fig. 1

References

  1. van Wijk R et al (2004) Distinct phenotypic expression of two de novo missense mutations affecting the dimer interface of glucose-6-phosphate dehydrogenase. Blood Cells Mol Diseases 32(1):112–117

    Article  Google Scholar 

  2. Filosa S et al (1994) A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia. Hum Genet 94(5):560–562

    Article  PubMed  CAS  Google Scholar 

  3. Poggi V et al (1990) Identification of a single base change in a new human mutant glucose-6-phosphate dehydrogenase gene by polymerase-chain-reaction amplification of the entire coding region from genomic DNA. Biochem J 271(1):157–160

    PubMed  CAS  Google Scholar 

  4. Au SW et al (2000) Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency. Structure 8(3):293–303

    Article  PubMed  CAS  Google Scholar 

  5. Roos D et al (1999) Molecular basis and enzymatic properties of glucose 6-phosphate dehydrogenase volendam, leading to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections. Blood 94(9):2955–2962

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Mammen Chandy.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Edison, E.S., Melinkeri, S.R. & Chandy, M. A novel missense mutation in glucose-6-phosphate dehydrogenase gene causing chronic nonspherocytic hemolytic anemia in an Indian family. Ann Hematol 85, 879–880 (2006). https://doi.org/10.1007/s00277-006-0156-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00277-006-0156-7

Keywords

Navigation