HEMOGLOBIN, 2024 (SCI-Expanded)
Beta thalassemia is one of the monogenic disorders characterized by decreased production of beta-globin chains and various types of mutations have been reported to cause thalassemia phenotype. On the other hand, rare mutations also affect and diversify the disease spectrum. Herein, we present an anemic patient from Turkey diagnosed with dominant beta thalassemia due to a heterozygous mutation in exon 3 of the HBB gene.