Article
Thalassemia intermedia as a result of heterozygosis for beta 0 -thalassemia and alpha alpha alpha anti-3,7 genotype in a Brazilian patient.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Jun 2003
Kimura E M, Grignoli C R E, Pinheiro V R P, Costa F F, Sonati M F
Abstract excerpt
We report a case in which the interaction of heterozygosis for both the 0-IVS-II-1 (G->A) mutation and the alpha alpha alpha anti-3,7 allele was the probable cause for the clinical occurrence of thalassemia intermedia. The propositus, a 6-year-old Caucasian Brazilian boy of Portuguese descent, showed a moderately severe chronic anemia in spite of having the -thalassemia trait. Investigation of the alpha-globin...
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