ABSTRACT
Background: co-inheritance of beta- and delta-globin mutations in Iran is not uncommon. This situation may interfere with correct diagnosis and genetic counseling of alpha- and beta-thalassemia in screening programs. Here we report the co-inheritance of beta- and delta-globin gene mutations in an individual with microcytosis, hypochromia and a normal hemoglobin A2 [HbA2] level
Methods: genomic DNA extraction, amplication refractory mutation system [ARMS] polymerase chain reaction and direct DNA sequencing of delta- and beta-globin genes were exploited for detection of the mutations in these two genes in an individual with low hematological indices and normal HbA2
Results: ARMS-PCR technique revealed the beta+ IVSI-5 [G to C] mutation and direct DNA sequencing of the delta-globin gene detected a previously reported delta codon 12 [AATàAAA] HbA2-NYU. This study reports HbA2-NYU in association with the beta IVSI-5 [G to C] mutation in Iran
Discussion: this report emphasizes that normal HbA2 expression in a beta-goblin carrier is due to mutation in the delta-globin gene and may cause misdiagnosis of thalassemia