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:: Volume 14, Number 2 (Summer 2017) ::
Back to browse issues page 2017, 14(2): 109-117
Prevalence of various mutations in Beta thalassaemia in Province of Chahar Mahal Bakhtiari and Isfahan and its association with haematological parameters
E. Heidari Soureshjani, S. Vallian, S.F. Mirahmadi Babaheidari, F. Abasian *
Abstract:   (41 Views)

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. c2, 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.

Keywords: Key words: Beta thalassaemia, Haematological parameters, Mutation, Prevalence
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Type of Study: Research | Subject: Molecular Genetic
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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. Scientific Journal of Iran Blood Transfus Organ. 2017; 14 (2) :109-117
URL: http://bloodjournal.ir/article-1-1104-en.html
Back to browse issues page Volume 14, Number 2 (Summer 2017)
فصلنامه پژوهشی خون Scientific Journal of Iran Blood Transfus Organ
The Scientific Journal of Iranian Blood Transfusion Organization - Copyright 2006 by IBTO
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