MOLECULAR ANALYSIS OF ALPHA GLOBIN GENES NON DELETIONAL MUTATIONS IN ALPHA THALASSEMIA PATIENTS IN KERMANSHAH PROVINCE

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ALIBAKHSHI REZA; KHALEGI SOMAYEH; AKRAMIPOUR REZA; BIDOKI SEYED KAZEM

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Journal: Razi Journal of Medical Sciences Year:2014 | Volume:21 | Issue:118 Page(s): 13-21

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Title

MOLECULAR ANALYSIS OF ALPHA GLOBIN GENES NON DELETIONAL MUTATIONS IN ALPHA THALASSEMIA PATIENTS IN KERMANSHAH PROVINCE

Author(s)

ALIBAKHSHI REZA | KHALEGI SOMAYEH | AKRAMIPOUR REZA | BIDOKI SEYED KAZEM | Issue Writer Certificate

Keywords

IRANQ3

NONDELETIONAL ALPHA THALASSEMIAQ2

SEQUENCINGQ2

KERMANSHAHQ3

Abstract

Background: Alpha thalassemia is a single gene disorder, inherited in an autosomal recessive manner. The thalassemia occurs mostly in peoples from the Mediterranean to Southeast Asia. The present study was aimed to identify the prevalence of NONDELETIONAL ALPHA THALASSEMIA mutations in our samples in the KERMANSHAH province.Methods: This study included Alpha thalassemia individuals who had referred to Medical Genetics Laboratory, KERMANSHAH University of Medical Sciences, KERMANSHAH, IRAN, between March 2009 and February 2011. Subjects were from different geographic areas of KERMANSHAH province in the west of IRAN.Forty patients were selected upon having red cell indices suggestive of non deletional alpha thalassemia carrier status (MCV<80 fl and MCH<27pg, normal or slightly reduced HbA2 and HbF) after b- thalassemia, iron deficiency and deletional Alpha thalassemia were excluded.Blood samples were collected, and genomic DNA was extracted from peripheral blood leucocytes by salting out procedure. DNA analyses were performed using Amplification Refractory Mutation System (ARMS). Sequence analysis was applied for DNA samples when no mutation was detected with ARMS.Results: Six different types of mutations were determined in 39 subjects of 40 individuals. The most common Alpha-thalassemia mutation is apolyA4 which comprises 37.5% of the total mutations, followed by a-5nt (35%) and apolyA6 (17.5%). DNA SEQUENCING of the amplified a-globin genes revealed Hb Adana, Alpha1+1mRNA and alpha2+832 (G>A) point mutations.Conclusions: This is the first comprehensive study in this region. The results of the study can be also applied for the genetic counseling, population screening and prenatal diagnosis.

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APA: Copy

ALIBAKHSHI, REZA, KHALEGI, SOMAYEH, AKRAMIPOUR, REZA, & BIDOKI, SEYED KAZEM. (2014). MOLECULAR ANALYSIS OF ALPHA GLOBIN GENES NON DELETIONAL MUTATIONS IN ALPHA THALASSEMIA PATIENTS IN KERMANSHAH PROVINCE. RAZI JOURNAL OF MEDICAL SCIENCES (JOURNAL OF IRAN UNIVERSITY OF MEDICAL SCIENCES), 21(118), 13-21. SID. https://sid.ir/paper/10269/en

Vancouver: Copy

ALIBAKHSHI REZA, KHALEGI SOMAYEH, AKRAMIPOUR REZA, BIDOKI SEYED KAZEM. MOLECULAR ANALYSIS OF ALPHA GLOBIN GENES NON DELETIONAL MUTATIONS IN ALPHA THALASSEMIA PATIENTS IN KERMANSHAH PROVINCE. RAZI JOURNAL OF MEDICAL SCIENCES (JOURNAL OF IRAN UNIVERSITY OF MEDICAL SCIENCES)[Internet]. 2014;21(118):13-21. Available from: https://sid.ir/paper/10269/en

IEEE: Copy

REZA ALIBAKHSHI, SOMAYEH KHALEGI, REZA AKRAMIPOUR, and SEYED KAZEM BIDOKI, “MOLECULAR ANALYSIS OF ALPHA GLOBIN GENES NON DELETIONAL MUTATIONS IN ALPHA THALASSEMIA PATIENTS IN KERMANSHAH PROVINCE,” RAZI JOURNAL OF MEDICAL SCIENCES (JOURNAL OF IRAN UNIVERSITY OF MEDICAL SCIENCES), vol. 21, no. 118, pp. 13–21, 2014, [Online]. Available: https://sid.ir/paper/10269/en

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