Display options
Cite
Wagner SC, de Castro SM, Gonzalez TP, et al. Prevalence of common α-thalassemia determinants in south Brazil: Importance for the diagnosis of microcytic anemia. Genet Mol Biol. 2010;33(4):641-5doi: 10.1590/S1415-47572010005000086.
Wagner, S. C., de Castro, S. M., Gonzalez, T. P., Santin, A. P., Filippon, L., Zaleski, C. F., Azevedo, L. A., Amorin, B., Callegari-Jacques, S. M., & Hutz, M. H. (2010). Prevalence of common α-thalassemia determinants in south Brazil: Importance for the diagnosis of microcytic anemia. Genetics and molecular biology, 33(4), 641-5. https://doi.org/10.1590/S1415-47572010005000086
Wagner, Sandrine C, et al. "Prevalence of common α-thalassemia determinants in south Brazil: Importance for the diagnosis of microcytic anemia." Genetics and molecular biology vol. 33,4 (2010): 641-5. doi: https://doi.org/10.1590/S1415-47572010005000086
Wagner SC, de Castro SM, Gonzalez TP, Santin AP, Filippon L, Zaleski CF, Azevedo LA, Amorin B, Callegari-Jacques SM, Hutz MH. Prevalence of common α-thalassemia determinants in south Brazil: Importance for the diagnosis of microcytic anemia. Genet Mol Biol. 2010 Oct;33(4):641-5. doi: 10.1590/S1415-47572010005000086. Epub 2010 Dec 01. PMID: 21637571; PMCID: PMC3036136.
Copy Download .nbib Format: NLM
Share it on

Genet Mol Biol. 2010 Oct;33(4):641-5. doi: 10.1590/S1415-47572010005000086. Epub 2010 Dec 01.

Prevalence of common α-thalassemia determinants in south Brazil: Importance for the diagnosis of microcytic anemia.

Genetics and molecular biology

Sandrine C Wagner, Simone M de Castro, Tatiana P Gonzalez, Ana P Santin, Leticia Filippon, Carina F Zaleski, Laura A Azevedo, Bruna Amorin, Sidia M Callegari-Jacques, Mara H Hutz

Affiliations

  1. Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS Brazil.

PMID: 21637571 PMCID: PMC3036136 DOI: 10.1590/S1415-47572010005000086

Abstract

Alpha thalassemia has not been systematically investigated in Brazil. In this study, 493 unrelated individuals from the southernmost Brazilian state of Rio Grande do Sul were screened for deletional forms of α-thalassemia. One hundred and one individuals had microcytic anemia (MCV < 80 fL) and a normal hemoglobin pattern (Hb A (2) < 3.5% and Hb F < 1%). The subjects were screened for - α(3.7) , - α(4.2) , - α(20.5) , - (SEA) and - (MED) deletions but only the - α(3.7) allele was detected. The - α(3.7) allele frequency in Brazilians of European and African ancestry was 0.02 and 0.12, respectively, whereas in individuals with microcytosis the frequency was 0.20. The prevalence of α-thalassemia was significantly higher in individuals with microcytosis than in healthy individuals (p = 0.001), regardless of their ethnic origin. There were also significant differences in the hematological parameters of individuals with - α(3.7) / αα, - α(3.7) /- α(3.7) and β-thalassemia trait compared to healthy subjects. These data suggest that α-thalassemia is an important cause of microcytosis and mild anemia in Brazilians.

Keywords: Brazilian population; alpha-thalassemia; genotype; hemoglobin; microcytosis

References

  1. Br J Haematol. 1986 Jul;63(3):497-501 - PubMed
  2. Br J Haematol. 1993 Jan;83(1):105-11 - PubMed
  3. Microbes Infect. 2006 Aug;8(9-10):2352-8 - PubMed
  4. Am J Clin Pathol. 2007 Feb;127(2):192-6 - PubMed
  5. Genet Mol Res. 2009 Apr 28;8(2):477-81 - PubMed
  6. Baillieres Clin Haematol. 1993 Mar;6(1):215-62 - PubMed
  7. Blood. 2001 Jul 1;98(1):250-1 - PubMed
  8. Ann Hematol. 2006 Dec;85(12):829-31 - PubMed
  9. Cad Saude Publica. 2005 Jan-Feb;21(1):292-8 - PubMed
  10. Hemoglobin. 2006;30(3):355-64 - PubMed
  11. Ann Hematol. 2008 May;87(5):381-4 - PubMed
  12. Am J Phys Anthropol. 2009 Jul;139(3):404-12 - PubMed
  13. Proc Natl Acad Sci U S A. 2003 Jan 7;100(1):177-82 - PubMed
  14. Hum Biol. 1995 Aug;67(4):535-46 - PubMed
  15. Am J Hum Biol. 2003 Nov-Dec;15(6):824-34 - PubMed
  16. Haematologica. 1997 Sep-Oct;82(5):592-3 - PubMed
  17. Hemoglobin. 1995;19(6):343-52 - PubMed
  18. Hemoglobin. 2005;29(1):51-60 - PubMed
  19. Semin Hematol. 1990 Jul;27(3):209-28 - PubMed
  20. Braz J Med Biol Res. 2001 Jun;34(6):759-62 - PubMed
  21. Haematologica. 1996 Sep-Oct;81(5):387-96 - PubMed
  22. Nucleic Acids Res. 1991 Oct 11;19(19):5444 - PubMed
  23. Epidemiol Perspect Innov. 2004 Dec 17;1(1):6 - PubMed
  24. Am J Hum Biol. 2008 May-Jun;20(3):359-63 - PubMed
  25. Hemoglobin. 1991;15(4):309-11 - PubMed
  26. Cell Mol Life Sci. 2009 Apr;66(7):1154-62 - PubMed
  27. Ann Hum Genet. 2006 Nov;70(Pt 6):822-8 - PubMed
  28. Am J Hematol. 1996 Oct;53(2):81-91 - PubMed

Publication Types