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Prevalence of various mutations in Beta thalassaemia in Province of Chahar Mahal Bakhtiari and Isfahan and its association with haematological parameters
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E. Heidari Soureshjani   , S. Vallian , S.F. Mirahmadi Babaheidari , F. Abasian |
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| Keywords: Key words: Beta thalassaemia, Haematological parameters, Mutation, Prevalence |
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Type of Study: Research |
Subject:
Molecular Genetic
Published: 2017/06/18
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Full-Text: (3786 Views) |
References:
- Greer P, Foerster J, Lukens JN, Rodgers GM, Paraskeva F, Glader B. Wintrobe’s Clinical Hematology 11th ed. Philadelphia: Lippincott Williams & Wilkins; 2004; p. 1320-52.
- Christianson A, Streetly A, Darr A. Lessons from thalassemia screening in Iran. BMJ 2004; 329(7475): 1115-7.
- Galanello R, Cao A. Gene test review. Alpha-thalassemia. Genet Med 2011; 13(2): 83-8.
- Sahu PK, Pati SS, Mishra SK. Genotype-phenotype correlation of β-thalassemia spectrum of mutations in an Indian population. Hematol Rep 2012; 4(2): e9.
- Cao A, Galanello R. Beta-thalassemia. Genet Med 2010; 12(2): 61-76.
- Huang CH, Chang YY, Chen CH, Ko TM. Molecular characterization of a beta-globin gene deletion of 1357 bp in a Taiwanese beta-thalassemia carrier. Hemoglobin 2008; 32(5): 498-504.
- Old JM. Screening and genetic diagnosis of haemoglobin disorders. Blood Rev 2003; 17(1): 43-53.
- Hardison RC, Chui DH, Giardine B, Riemer C, Patrinos G, Anagnou N, et al. HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat 2002; 19(3): 225-33.
- Rezaei S, Karami Matin B, Hajizadeh M. Comment on: "Economic Burden of Thalassemia Major in Iran, 2015". J Res Health Sci 2016; 16(4): 233-4.
- Karimi M, Alavian Ghavanini A, Kadivar MR. Regional mapping of the gene frequency of beta thalassemia in Fars province, Iran during 1997-1998. Iran J Med Sci 2000; 25(3-4): 134-7.
- Bencaiova G, Dapoto K, Zimmermann R, Krafft A. Red blood cell parameters in antenatal nonsickling
hemoglobinopathy screening. Int J Womens Health 2015; 7: 379-84.
- Mahboudi F, Zeinali S, Merat A, Delmaghani S, Mostafavipour K, Moghadam Z, et al. The molecular basis of beta thalassemia mutations in Fars province, Iran. Iran J Med Sci 1996; 21: 99-104.
- Najmabadi H, Karimi Nejad R, Sahebjam S, Pourfarzad F, Teimourian SH, Sahebjam F, et al. The beta thalassemia mutation spectrum in the Iranian population. Hemoglobin 2001; 25(3): 285-96.
- Weatherall DJ, Clegg JB, Higgs DR, Wood WG. The hemoglobinopathies. In: Scriver CR. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001. p. 4571-636.
- Jha R, Jha S. Beta thalassemia - a review. Journal of Pathology of Nepal 2014; 4: 663-71.
- Saki N, Dorgalaleh A, Kashani Khatib Z, Alizadeh S, Rahim F, Galehdari H, et al. Prevalence of Co-Inheritance of Alpha-Thalassemia with Beta-Thalassemia and Beta-Hemoglobinopathy in Ahvaz City. J Ardabil Univ Med Sci 2013; 13(3): 287-96. [Article in Farsi]
- Ameneh S, Aminzadeh M, Pourmoghadam Z, Mahdieh N. Frequency of the Common β-thalassemia Mutations among the Referents of Ilam Health Centers during a Five Year Period. Scientific Journal of Ilam University of Medical Sciences 2014; 22(2): 17-23. [Article in Farsi]
- Zarbakhsh B, Eghbalpour F, Farshadi E, Fallah MS, Karimipoor M, Kaeini Moghadam Z, et al. Frequency of alpha thalassemia carriers detected in Tehran pre marriage screening using molecular techniques. Sci J Iran Blood Transfus Organ 2013; 9(4): 414-21. [Article in Farsi]
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Sci J Iran Blood Transfus Organ 2017; 14(2): 109-117
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Prevalence of various mutations in Beta thalassaemia in Province of Chahar Mahal Bakhtiari and Isfahan and its association with haematological parameters
Heidari Soureshjani E.1,2, Vallian S.3, Mirahmadi Babaheidari S.F.4, Abasian F.4
1Blood Transfusion Research Centre, High institute for Research and Education in transfusion Medicine Tehran, Iran
2Shahrekord Regional Blood Transfusion Center, Shahrekord, Iran
3School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
4Faculty of Basic Sciences, Shahrekord Branch, Islamic Azad University, Sahrekord, Iran
Abstract
Background and Objectives
There is considerable phenotypic variation of Beta-thalassemia with common mutations whose understanding would facilitate the prevention of the specific syndromes. The aim of this study was to determine the common Beta-thalassemia mutations in Isfahan and Chaharmahal Bakhtiari province and thier relationship with blood parameters.
Materials and Methods
In this descriptive study, 10 ml venous blood samples were taken from 321 Beta thalassemia carriers having referred to the private Isfahan Center of Medical Genetics in 2016. For the confirmation of the diagnosis of Beta thalassemia in these patients, the indices of MCV and MCH with Mindary device and HbA1, HbA2, Hbf and RBC with the electrophoresis method were measured. c 2, t-test and SPSS 22 were used in analyzing data.
Results
Mutation Fr36/37 (-T) in the population studied in Isfahan and Chaharmahal Bakhtiari with the frequency rates of 34 (26.35%) and 22 (32.35%) showed the highest in the studied mutations. About 80% of cases were detectable mutations in the beta globin gene in the people with HbA2 > 3.5 and in 100% of cases with MCH < 27 and MCV < 80.
Conclusions
Beta-thalassemia mutations among Chaharmahal Bakhtiari and Isfahan populations show diversity and wide distribution. Average mutations studied based on blood indices showed a wide variety. The results showed a positive correlation between beta-thalassemia mutations and red blood cells indices which can be effective in fast and efficient screening of these common mutations .
Key words: Beta thalassaemia, Haematological parameters, Mutation, Prevalence
Received: 5 Feb 2017
Accepted: 18 Apr 2017
Correspondence: Abasian F., MSc of Biochemistry. Faculty of Basic Sciences, Shahrekord Branch, Islamic Azad University.
Postal Code: 8814614455, Shahrekord, Iran. Tel: (+9838) 3331482; Fax: (+9838) 33335457
E-mail: m.peymani62@gmail.com
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Heidari Soureshjani E, Vallian S, Mirahmadi Babaheidari S, Abasian F. Prevalence of various mutations in Beta thalassaemia in Province of Chahar Mahal Bakhtiari and Isfahan and its association with haematological parameters. Sci J Iran Blood Transfus Organ 2017; 14 (2) :109-117 URL: http://bloodjournal.ir/article-1-1104-en.html
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