Skip to main content
Log in

Hb Famagusta—analysis of a novel δ-globin chain variant [HBD:c.60C>A] in four families with diverse globin genotypes

  • 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. Mosca A, Paleari R, Ivaldi G, Galanello R, Giordano PC (2009) The role of haemoglobin A(2) testing in the diagnosis of thalassaemias and related haemoglobinopathies. J Clin Pathol 62(1):13–17. doi:10.1136/jcp.2008.056945

    Article  CAS  PubMed  Google Scholar 

  2. Baysal E, Kleanthous M, Bozkurt G, Kyrri A, Kalogirou E, Angastiniotis M, Ioannou P, Huisman TH (1995) alpha-Thalassaemia in the population of Cyprus. Br J Haematol 89(3):496–499

    Article  CAS  PubMed  Google Scholar 

  3. Spence SE, Pergolizzi RG, Donovan-Peluso M, Kosche KA, Dobkin CS, Bank A (1982) Five nucleotide changes in the large intervening sequence of a beta globin gene in a beta+ thalassemia patient. Nucleic Acids Res 10(4):1283–1294

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  4. Pavlou E, Phylactides M, Kyrri A, Kalogerou E, Makariou C, Georgiou I, Kleanthous M (2006) Delta-thalassemia in Cyprus. Hemoglobin 30(4):455–462

    Article  CAS  PubMed  Google Scholar 

  5. Lederer CW, Basak AN, Aydinok Y, Christou S, El-Beshlawy A, Eleftheriou A, Fattoum S, Felice AE, Fibach E, Galanello R, Gambari R, Gavrila L, Giordano PC, Grosveld F, Hassapopoulou H, Hladka E, Kanavakis E, Locatelli F, Old J, Patrinos GP, Romeo G, Taher A, Traeger-Synodinos J, Vassiliou P, Villegas A, Voskaridou E, Wajcman H, Zafeiropoulos A, Kleanthous M (2009) An electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-Mediterranean ITHANET project. Hemoglobin 33(3):163–176. doi:10.1080/03630260903089177

    Article  CAS  PubMed  Google Scholar 

  6. Sen U, Dasgupta J, Choudhury D, Datta P, Chakrabarti A, Chakrabarty SB, Chakrabarty A, Dattagupta JK (2004) Crystal structures of HbA2 and HbE and modeling of hemoglobin delta 4: interpretation of the thermal stability and the antisickling effect of HbA2 and identification of the ferrocyanide binding site in Hb. Biochemistry 43(39):12477–12488. doi:10.1021/bi048903i

    Article  CAS  PubMed  Google Scholar 

  7. Capriotti E, Fariselli P, Casadio R (2005) I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure. Nucleic Acids Res 33(Web Server issue):W306–W310

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  8. Alanazi M, Abduljaleel Z, Khan W, Warsy AS, Elrobh M, Khan Z, Al Amri A, Bazzi MD (2011) In silico analysis of single nucleotide polymorphism (SNPs) in human beta-globin gene. PLoS One 6(10):e25876. doi:10.1371/journal.pone.0025876

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  9. Van Durme J, Delgado J, Stricher F, Serrano L, Schymkowitz J, Rousseau F (2011) A graphical interface for the FoldX forcefield. Bioinformatics 27(12):1711–1712. doi:10.1093/bioinformatics/btr254

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

This work was in part funded by the European Union FP7 THALAMOSS project (#306201). The authors thank all study subjects for their participation, Eleni Karitsi for technical assistance, and Coralea Stephanou and Petros Kountouris for critical revision of the manuscript.

Conflict of interest

The authors declare that they have no conflict of interest.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Carsten W. Lederer.

Electronic supplementary material

Below is the link to the electronic supplementary material.

ESM 1

(PDF 373 kb)

ESM 2

(PDF 884 kb)

Rights and permissions

Reprints and permissions

About this article

Cite this article

Lederer, C.W., Pavlou, E., Makariou, C. et al. Hb Famagusta—analysis of a novel δ-globin chain variant [HBD:c.60C>A] in four families with diverse globin genotypes. Ann Hematol 93, 1625–1627 (2014). https://doi.org/10.1007/s00277-013-1996-6

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00277-013-1996-6

Keywords

Navigation