hemoglobin e/β⁰ thalassemia in south west iran - a case series

background: beta thalassemia gene mutations are among common mutations in southwest iran. however, hemoglobin e (hb e) and hb e/β⁰ thalassemia account for a small number of hemoglobinopathies in iran. this is the first study to directly address the existence of hb e and consequently hb e/β⁰ thalassemia in southwest iran. methods: this retrospective study discovered seven cases of hb e/β⁰ thalassemia among 700 patients with hemoglobinopathies referring to health institute and research center for thalassemia and hemoglobinopathy in southwest iran. edta and clot blood samples were obtained and analyzed for complete blood counts, hemoglobin electrophoresis, ldh, bilirubin, ferritin and amplification refractory mutation system (arms) technique by polymerase chain reaction (pcr) and dna sequencing. results: out of 700 cases, seven patients with hb e/β⁰ thalassemia were detected (1%). four patients were classified into non-transfused dependent hb e/β⁰ thalassemia and three cases were classified into transfusion dependent hb e/β⁰ thalassemia group. alpha thalassemia (deletional and non-deletional) and xmni gene polymorphism were not found in either of cases. conclusion: hb e/β thalassemia is not a common hemoglobin disorder in southwest iran. phenotype heterogeneity is common in iranian patients from a mild asymptomatic anemia to severe anemia that can be presented in the early years of life. this was the first report of hb e/β⁰ thalassemia from iran. keywords: hb e/β⁰ thalassemia, southwest iran, transfusion dependent, non-transfusion dependent, hb e mutation.