Medical Laboratory Journal

fa Prevalence of Hemoglobin Mutations and Hemoglobinopathies in Masjed Soleiman County, Southeastern Iran فیزیولوژی ورزشی Sport Physiology تحقيقي Original Paper <div>ABSTRACT              Background and Objectives: <a name="_Hlk508130077">Hemoglobinopathies </a>are characterized by defects in the synthesis of globin chains of hemoglobin (Hb). The purpose of the present study was to evaluate mutations associated with thalassemia and other hemoglobinopathies in Masjed Soleiman County, Iran.              Methods: This descriptive study was carried out on 456 individuals suspected of having hemoglobinopathies who were referred to health centers of the Masjed Soleiman Country in 2015-2017. Blood samples were collected in EDTA tubes. Complete blood count test was performed and red blood cell indices were determined. Level of Hb variants was measured using capillary electrophoresis. Reverse dot-blot, gap-polymerase chain reaction and Sanger sequencing were carried out to detect mutations.               Results: We found that 17.7% of the subjects were heterozygous for β-thalassemia. Frequency of mutations 36/37 (–T), IVS-II-1 (G>A) and IVS-I-110 (G>A) <a name="_Hlk507001617">in the </a>β-globin gene was 26.7%, 22% and 16.27%, respectively. In addition, 9.5% of the subjects contained Hb S, Hb D and Hb C, while 1.1% of the subjects showed co-inheritance of an Hb variant and β-thalassemia. In subjects with α-thalassemia, the -α3.7 (57.1%), -- MED–(17.4%), -α4.2 (3.1%) and -α20.5 (1.5%) deletions were found as the most prevalent mutations.              Conclusion: In addition to the high prevalence of β-thalassemia and HBB gene mutations, we detected variants Hb S, Hb D, Hb C and co-inheritance of an Hb variants and β-thalassemia in individuals living in the Masjed Soleiman Country. We also identified four mutations in the α-globin gene. These results can be useful for genetic counseling in this population. <ol style="list-style-type:upper-alpha;"> <li value="3148047270">             : Hemoglobinopathies, β-Thalassemia, α-Thalassemia, mutation, HB variant.</li> </ol> </div> Hemoglobinopathies, β-Thalassemia, α-Thalassemia, mutation, HB variant. 48 54 http://mlj.goums.ac.ir/browse.php?a_code=A-10-637-1&slc_lang=fa&sid=1 Fatemeh Asadi 100319475328460015299 100319475328460015299 No Department of Molecular Genetics, Science and Research Branch, Islamic Azad University, Fars, Iran Department of Molecular Genetics, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran Seyedeh Moloud Rasouli Ghahfarokhi 100319475328460015300 100319475328460015300 Yes Department of Nursing and Midwifery, Masjed-Soleiman Branch, Islamic Azad University, Masjed-Soleiman, Iran Forough Talebi 100319475328460015301 100319475328460015301 No Department of Midwifery, Faculty of Nursing and Midwifery, Tehran Medical Sciences Branch, Islamic Azad University, Tehran, Iran