THE FREQUENCY AND IMPORTANCE OF COMMON α-GLOBIN GENE DELETIONS AMONG β-THALASSEMIA CARRIERS IN AN IRANIAN POPULATION

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Journal: Avicenna Journal of Medical Biotechnology Year:2017 | Volume:9 | Issue:4 Page(s): 196-200

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Title

THE FREQUENCY AND IMPORTANCE OF COMMON α-GLOBIN GENE DELETIONS AMONG β-THALASSEMIA CARRIERS IN AN IRANIAN POPULATION

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Keywords

ALPHA THALASSEMIA

BETA THALASSEMIA

HYPOCHROMIC ANEMIA

Abstract

Background: b-thalassemia is the most common monogenic disorder in Iran, and one of the challenges in the screening of the carriers is the coinheritance of a-thalassemia mutations. In the view of high prevalence of α-thalassemia mutations in many parts of the country, the aim of this study was to determine the carrier frequency of common alpha deletions, as a secondary modifier in clinical manifestations of BETA THALASSEMIA, in known beta-thalassemia carriers and some hematology parameter changes.Methods: The study included families referred from different primary health care centers with microcytic HYPOCHROMIC ANEMIA [MCV<80fl; MCH<27 pg] and A2>3.4%]. Genomic DNA was extracted from peripheral blood leukocytes by salting out method. For common β-globin gene mutation analysis, amplification refractory mutation system- polymerase chain reaction (ARMS-PCR) and for rare b -thal alleles, DNA sequencing were used. Also, for investigation of common α-globin gene cluster deletions (-a3.7, -a4.2, --MED and -a20.5), multiplex Gap-PCR was performed.Results: Among 227 b -thalassemia minor individuals studied, a-globin gene deletions were found in 43 cases: 37 heterozygote -a3.7 (16.3%), 5 homo -a3.7 (2.2%) and 1 -- MED (0.44%). Also, the co-inheritance of α-globin gene deletion and triplication was not found in the studied individuals.Conclusion: Although it is highly recommended that physicians and genetic counselors involved in the screening program of beta-thal major in the country consider this phenomenon because of high prevalence of this coinheritance, hematologic indices changes are very slight.

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APA: Copy

. (2017). THE FREQUENCY AND IMPORTANCE OF COMMON α-GLOBIN GENE DELETIONS AMONG β-THALASSEMIA CARRIERS IN AN IRANIAN POPULATION. AVICENNA JOURNAL OF MEDICAL BIOTECHNOLOGY (AJMB), 9(4), 196-200. SID. https://sid.ir/paper/313972/en

Vancouver: Copy

. THE FREQUENCY AND IMPORTANCE OF COMMON α-GLOBIN GENE DELETIONS AMONG β-THALASSEMIA CARRIERS IN AN IRANIAN POPULATION. AVICENNA JOURNAL OF MEDICAL BIOTECHNOLOGY (AJMB)[Internet]. 2017;9(4):196-200. Available from: https://sid.ir/paper/313972/en

IEEE: Copy

, “THE FREQUENCY AND IMPORTANCE OF COMMON α-GLOBIN GENE DELETIONS AMONG β-THALASSEMIA CARRIERS IN AN IRANIAN POPULATION,” AVICENNA JOURNAL OF MEDICAL BIOTECHNOLOGY (AJMB), vol. 9, no. 4, pp. 196–200, 2017, [Online]. Available: https://sid.ir/paper/313972/en

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