Hashemi-Soteh, S.M.B. and Karami, H. and Mousavi, S.S. and Farazmandfar, T. and Tamadoni, A. (2020) Alpha-globin gene mutation spectrum in patients with microcytic hypochromic anemia from Mazandaran Province, Iran. Journal of Clinical Laboratory Analysis, 34 (1).
Full text not available from this repository.Abstract
Background: It is estimated about 7 of the world population is carriers of hemoglobin diseases. Alpha-thalassemia is one of the most common hereditary hemoglobin disorders in the world. This study investigated alpha-globin mutations in potential carriers with hypochromic and microcytic anemia from Mazandaran, in northern Iran. Methods: A total of 859 subjects were selected; genomic DNA was extracted and examined for the presence of mutations in the alpha-globin genes. Results: Mutation analysis of alpha-globin genes revealed 27 different mutations. Seven variants were seen in 91.45 of all alpha-1 and alpha-2 mutations among patients in this study. The 3.7 kb deletion is the most frequent mutation with a frequency of 49.53, followed by PolyA2 (15.19), â��4.2 deletion (8.76), —MED (5.84), IVSI-5nt deletion (5.49), Hb constant spring (3.62), and Cd 19 (â��G; 3.04), respectively. There are also seven new variants which were reported for the first time either in alpha-1 or alpha-2 genes, including codon 9 (C > A; α2), deletion of codon 60 (AAG deletion; α2), duplication of codon 94-100 plus 3 base pairs of intron 2 (IVSII + 3; α1), codon 99 (C > A; α2), codon 108 (A > G; α2), codon 128 (A > T; α2), and codon 129 (T > G; α2), respectively. The MLPA method also revealed three rare and novel deletions in alpha-cluster region with about 30 kilobases long. Conclusion: This study showed an efficient identification of α-thalassemia can be achieved using standard hematological indices in our population. The details of these variations will help local genetic services for diagnostic and prenatal diagnosis services. © 2019 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals, Inc.
| Item Type: | Article |
|---|---|
| Additional Information: | cited By 1 |
| Uncontrolled Keywords: | genomic DNA; hemoglobin alpha chain, alpha globin gene; alpha thalassemia; Article; base pairing; codon; controlled study; DNA determination; DNA extraction; DNA sequencing; female; gene cluster; gene deletion; gene duplication; gene frequency; gene mutation; genetic variability; heterozygote; human; human cell; intron; Iran; iron deficiency anemia; major clinical study; male; point mutation |
| Subjects: | سیستم های خونی و لنفاوی WH آسیب شناسی QZ مقالات نمایه شده محققین دانشگاه در سایت ,Web of Science ,Scopus |
| Divisions: | معاونت تحقیقات و فناوری |
| Depositing User: | GOUMS |
| Date Deposited: | 14 Apr 2020 04:42 |
| Last Modified: | 14 Apr 2020 04:42 |
| URI: | http://eprints.goums.ac.ir/id/eprint/10554 |
Actions (login required)
 |
View Item |
