Thalassemia intermedia as a result of heterozygosis for ß0-thalassemia and <FONT FACE=Symbol>aaa</FONT>anti-3.7/<FONT FACE=Symbol>aa</FONT> genotype in a Brazilian patient

Abstract

We report a case in which the interaction of heterozygosis for both the ß0-IVS-II-1 (G->A) mutation and the <FONT FACE=Symbol>aaa</FONT>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 ß-thalassemia trait. Investigation of the alpha-globin gene status revealed heterozygosis for alpha-gene triplication (<FONT FACE=Symbol>aaa</FONT>/<FONT FACE=Symbol>aa</FONT>). The patient's father, also presenting mild microcytic and hypochromic anemia, had the same alpha and ß genotypes as his son, while the mother, not related to the father and hematologically normal, was also a carrier of the <FONT FACE=Symbol>aaa</FONT>anti-3.7 allele. The present case emphasizes the need for considering the possibility of alpha-gene triplication in ß-thalassemia heterozygotes who display an unexpected severe phenotype. The ß-thalassemia mutation found here is being described for the first time in Brazil.