title: [Heterozygous β thalassemia with triplication of the α globin gene].
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.
authors.affiliation: Hospital de Dia Hemato-Oncologia, Hospital S. Teotónio, Viseu, Portugal.
authors.forename: Ma Conceição
authors.initials: MC
authors.lastname: Constanço
authors.forename: Paula
authors.initials: P
authors.lastname: Rocha
authors.forename: Celeste
authors.initials: C
authors.lastname: Bento
authors.forename: Helena M
authors.initials: HM
authors.lastname: Silva
mesh_terms: D005260:Female; D006579:Heterozygote; D006801:Humans; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D055542:alpha-Globins