Co-Inheritance of Heterozygous β0-Thalassemia with Single Functional α-Globin Gene: Challenges of Carrier Detection in Pre-Marital Screening Program for Thalassemia

This is a report of couple with abnormal hematological indices who were investigated for α & β-thalassemia mutations. Based on CBC and capillary hemoglobin electrophoresis results, the male female subjects β α-thalassemia carriers, respectively. Multiplex-Gap-PCR Sanger sequencing techniques used identification mutations β-globin genes. The DNA test showed presence c.315 + 1 G > A mutation gene subject while case had – MED double deletion c.427T C α-globin and, interestingly, she was also carrier gene. Cases coinheritance heterozygous β0-thalassemia one functional have normal HbA2 levels that may lead to their being misdiagnosed as especially in premarital screening programs thalassemia. Therefore, recommended cases Hb reduced thalassemia, regions high frequency mutations, order identify all carriers.