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Keikhaei B.,Ahvaz Jundishapur University of Medical Sciences | Shariati G.,Narges Medical Genetics and Prenatal Diagnosis Laboratory | Abolghasemi H.,Shahid Beheshti University of Medical Sciences
Iranian Journal of Blood and Cancer | Year: 2015

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. © 2015, Iranian Pediatric Hematology and Oncology Society. All rights reserved. Source


Hamid M.,Pasteur Institute of Iran | Hamid M.,Narges Medical Genetics and Prenatal Diagnosis Laboratory | Shariati G.,Narges Medical Genetics and Prenatal Diagnosis Laboratory | Shariati G.,Ahvaz Jundishapur University of Medical Sciences | And 5 more authors.
Hemoglobin | Year: 2013

We report a novel mutation on the α2-globin gene, codon 83 (T>G), which was detected in two members of two unrelated families from Khuzestan Province, South Iran, that we named Hb Ahvaz. This mutation was detected by cellulose acetate electrophoresis and characterized by molecular studies. Hb Ahvaz does not seem to be responsible for hematological abnormalities in the carriers, but with α0-thalassemia (α0-thal) defects, might induce severe clinical symptoms. Copyright © Informa Healthcare USA, Inc. Source

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