Skip to main content
Log in

Compound heterozygosity of Hb Hamilton and de novo mutated HbM Saskatoon

  • 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.

References

  1. Nagel RL (2001) Disorders of hemoglobin function and stability. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL (eds) Disorders of hemoglobin. Cambridge University Press, Great Britain, pp 1155–1194

    Google Scholar 

  2. Huismann THJ, Carver MFH, Baysal E (1997) A syllabus of thalassemia mutations. Sickle Cell Anemia Foundation, Augusta

    Google Scholar 

  3. Old JM (2007) Screening and genetic diagnosis of haemoglobinopathies. Scand J Clin Lab Invest 67:71–86

    Article  CAS  PubMed  Google Scholar 

  4. Manca L, Cocco E, Cossu G, Masala B (1992) Identification of Hb Hamilton or beta 11(A8)Val––Ile gene by the polymerase chain reaction amplification technique. Biochim Biophys Acta 1139:17–19

    CAS  PubMed  Google Scholar 

  5. Stamatoyannopoulos G, Nute PE (1982) De novo mutations producing unstable Hbs or Hbs M. II. Direct estimates of minimum nucleotide mutation rates in man. Hum Genet 60:181–188

    Article  CAS  PubMed  Google Scholar 

  6. Antonarakis SE, Krawczak M, Cooper DN (2001) The nature and mechanisms of human gene mutations. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, 8th edn. McGraw-Hill, New York, pp 343–378

    Google Scholar 

  7. Percy MJ, Lappin TR (2008) Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency. Br J Haematol 141:298–308

    CAS  PubMed  Google Scholar 

  8. Haymond S, Cariappa R, Eby CS, Scott MG (2005) Laboratory assessment of oxygenation in methemoglobinemia. Clin Chem 51:434–444

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

We thank S. Simonen, S. Huber, A. van Geesink, and A. Ohanessian for expert technical assistance.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Andreas R. Huber.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Brunner-Agten, S., Hergersberg, M., Herklotz, R. et al. Compound heterozygosity of Hb Hamilton and de novo mutated HbM Saskatoon. Ann Hematol 89, 517–518 (2010). https://doi.org/10.1007/s00277-009-0828-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00277-009-0828-1

Keywords

Navigation