THE SPECTRUM OF MUTATIONS IN 100 THALASSEMIC CARRIERS REFERRED TO GHAEM HOSPITAL OF MASHHAD

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HAMZEHLOEI T.; MOHAJER TEHRAN F.

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: IRANIAN JOURNAL OF PEDIATRIC HEMATOLOGY AND ONCOLOGY Year:2012 | Volume:2 | Issue:2 Page(s): 49-53

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Title

THE SPECTRUM OF MUTATIONS IN 100 THALASSEMIC CARRIERS REFERRED TO GHAEM HOSPITAL OF MASHHAD

Author(s)

HAMZEHLOEI T. | MOHAJER TEHRAN F. | Issue Writer Certificate

Keywords

THALASSEMIA

MUTATION

PRENATAL DIAGNOSIS

Abstract

Background: THALASSEMIA is common in the Iranian population, and it must be considered in the differential diagnosis of the microcytic hypochromic anemia. The molecular analysis of b-THALASSEMIA is necessary for prenatal molecular diagnosis. Α-THALASSEMIA caused by loss of function of either one of the two duplicated a-globin genes or in less frequent non deletion MUTATIONs mostly located in the a2-globin gene.Materials and Methods: DNA were extracted from 100 whole blood using salting out method. The PCR was performed in two segments for entire b-globin gene and the a1 and a2-globin genes separately. Direct sequencing was carried out. The Gap-PCR was performed using published primers.Results: Clinical application of DNA analysis on thalassemic patients showed 42 persons have various b-THALASSEMIA MUTATIONs, 48 persons with aa/-a3.7 deletion and 8 persons with non deletion MUTATIONs of a1 and a2-globin genes. These MUTATIONs determined by direct sequencing of entire b-globin, a1 and a2-globin genes and Gap-PCR for detection of deletions. Thirteen different b-THALASSEMIA alleles were identified, the most common being IVS I-5 (G>C) and CAP+1 (A>C). The most a –globin MUTATION being aa/-a3.7 deletion.Conclusions: The frequency of MUTATIONs in North-east of Iran shows that these MUTATIONs are not the same as frequent MUTATION in other province of Iran. Feature study could determine molecular analysis of frequent MUTATIONs, which is useful for differentiating mild from severe alleles. In addition, MUTATION definition in carriers should be necessary for prenatal testing and genetic counseling.

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APA: Copy

HAMZEHLOEI, T., & MOHAJER TEHRAN, F.. (2012). THE SPECTRUM OF MUTATIONS IN 100 THALASSEMIC CARRIERS REFERRED TO GHAEM HOSPITAL OF MASHHAD. IRANIAN JOURNAL OF PEDIATRIC HEMATOLOGY AND ONCOLOGY, 2(2), 49-53. SID. https://sid.ir/paper/320590/en

Vancouver: Copy

HAMZEHLOEI T., MOHAJER TEHRAN F.. THE SPECTRUM OF MUTATIONS IN 100 THALASSEMIC CARRIERS REFERRED TO GHAEM HOSPITAL OF MASHHAD. IRANIAN JOURNAL OF PEDIATRIC HEMATOLOGY AND ONCOLOGY[Internet]. 2012;2(2):49-53. Available from: https://sid.ir/paper/320590/en

IEEE: Copy

T. HAMZEHLOEI, and F. MOHAJER TEHRAN, “THE SPECTRUM OF MUTATIONS IN 100 THALASSEMIC CARRIERS REFERRED TO GHAEM HOSPITAL OF MASHHAD,” IRANIAN JOURNAL OF PEDIATRIC HEMATOLOGY AND ONCOLOGY, vol. 2, no. 2, pp. 49–53, 2012, [Online]. Available: https://sid.ir/paper/320590/en

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