Abstract

The beta-thalassemia (thal) minor phenotypes with normal Hb A(2) levels and decreased MCV and MCH values are relatively rare beta-thal traits. Here, we describe a family with normal Hb A 2 and decreased MCV and MCH levels. Amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) revealed the IVS-II-1 (G -> A) mutation in the beta-globin gene of the proband and her father. Direct sequencing of the delta-globin gene of the proband and her father also revealed a previously reported variant called Hb A(2)-Troodos delta 116(G18)Arg -> Cys in cis with the IVS-II-1 (G -> A) beta(0)-thal mutation. This is the first case report of Hb A(2)-Troodos in association with the beta(0) IVS-II-1 mutation. Reduced Hb A(2) expression by a concomitant Hb A(2) beta-thal in cis or trans , may cause problems in carrier diagnostics, and eventually in genetic counseling and prenatal diagnosis when insufficient molecular analyses are performed.