Heterozygous β thalassemia with triplication of the α globin gene.

Authors

  • Ma Conceição Constanço Hospital de Dia Hemato-Oncologia, Hospital S. Teotónio, Viseu, Portugal.
  • Paula Rocha
  • Celeste Bento
  • Helena M Silva

DOI:

https://doi.org/10.20344/amp.476

Abstract

We describe a case in which the interaction of heterozygosis for the mutation Beta IVSI - 110 G> A and the ααα(anti 3,7) allele was the likely cause of the clinical occurrence of thalassemia intermedia. The proposita, a 19 years old, gypsy, Portuguese woman presented with chronic mild anemia, jaundice and splenomegaly in spite of having the β-thalassemia trait. The analysis of the α-globin gene revealed heterozygosis for α-globin gene triplication with the presence of allele ααα(anti -3.7). This case brings again to discussion the complexity of genetic interactions underlying a phenotype of thalassemia intermedia and stresses the importance of looking for another cause in individuals with beta-Thalassemia minor uncommom phenotype.

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How to Cite

1.
Constanço MC, Rocha P, Bento C, Silva HM. Heterozygous β thalassemia with triplication of the α globin gene. Acta Med Port [Internet]. 2011 Dec. 12 [cited 2024 Mar. 28];24(4):633-6. Available from: https://actamedicaportuguesa.com/revista/index.php/amp/article/view/476

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Section

Arquivo Histórico