EVALUATION OF THE PREVALENCE OF EIGHT BETA-THALASSEMIA MUTATIONS (CD5, CD8, CD16, FR36/37, CD39, CD44, IVSI-6 AND IVSI 3' END- 25BP) IN THALASSEMIC PATIENTS IN ISFAHAN USING ARMS-PCR

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SALEHI R.; SALEHI MANSOUR; HOUR FAR H.

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Journal Paper

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Journal: Journal of Isfahan Medical School Year:2005 | Volume:23 | Issue:76 Page(s): 1-7

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Title

EVALUATION OF THE PREVALENCE OF EIGHT BETA-THALASSEMIA MUTATIONS (CD5, CD8, CD16, FR36/37, CD39, CD44, IVSI-6 AND IVSI 3' END- 25BP) IN THALASSEMIC PATIENTS IN ISFAHAN USING ARMS-PCR

Author(s)

SALEHI R. | SALEHI MANSOUR | HOUR FAR H. | Issue Writer Certificate

Keywords

THALASSEMIAQ3

MUTATIONQ3

ARMSQ4

Abstract

THALASSEMIA, an autosomal recessive disorder, is one of the most prevalent single-gene disorders in Iran. There is no definite and easily available treatment for this disease; hence preventive measures using prenatal diagnosis (PND) constitutes the most effective way of controlling the disease. PND is usually performed in the first trimester using fetal tissue made available through CVS. Due to the heterogeneous genetic background of the Iranian population, a wide spectrum of MUTATIONs can be expected in thalassemic patients. Thus, a decision was made to study the prevalence of 8 important Mediterranean MUTATIONs using a PCR-based method (ARMS) in Isfahan Province.The most prevalent MUTATION was CD36/37 (-T) with a frequency of 17.5%, and the lowest was CD16 (-C) with a frequency of 1%. CD5 (-CT) was not detected in anyone of the cases. The prevalence of other MUTATIONs was as follows: CD8 (-AA) 8.3%, CD39 (C→T) 39%, IVSI-6 (T→C) 2.9%, CD44 (-C) 4.4% and IVSI-3' end-25bp 2%.The MUTATION CD36/37 (-T) had the highest frequency among the 8 THALASSEMIA MUTATIONs studied. Previous studies on thalassemic patients in Isfahan have never reported this MUTATION as a prevalent THALASSEMIA MUTATION in this region Isfahan. The results of this study, together with previous studies are useful in gradually building a reliable provincial THALASSEMIA MUTATION spectrum which will definitely help prenatal diagnosis and THALASSEMIA control in the country.

Cites

THE SPECTRUM OF BETA -THALASSEMIA MUTATIONS IN ISFAHAN PROVINCE OF IRAN

References

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APA: Copy

SALEHI, R., SALEHI, MANSOUR, & HOUR FAR, H.. (2005). EVALUATION OF THE PREVALENCE OF EIGHT BETA-THALASSEMIA MUTATIONS (CD5, CD8, CD16, FR36/37, CD39, CD44, IVSI-6 AND IVSI 3' END- 25BP) IN THALASSEMIC PATIENTS IN ISFAHAN USING ARMS-PCR. JOURNAL OF ISFAHAN MEDICAL SCHOOL (I.U.M.S), 23(76), 1-7. SID. https://sid.ir/paper/51098/en

Vancouver: Copy

SALEHI R., SALEHI MANSOUR, HOUR FAR H.. EVALUATION OF THE PREVALENCE OF EIGHT BETA-THALASSEMIA MUTATIONS (CD5, CD8, CD16, FR36/37, CD39, CD44, IVSI-6 AND IVSI 3' END- 25BP) IN THALASSEMIC PATIENTS IN ISFAHAN USING ARMS-PCR. JOURNAL OF ISFAHAN MEDICAL SCHOOL (I.U.M.S)[Internet]. 2005;23(76):1-7. Available from: https://sid.ir/paper/51098/en

IEEE: Copy

R. SALEHI, MANSOUR SALEHI, and H. HOUR FAR, “EVALUATION OF THE PREVALENCE OF EIGHT BETA-THALASSEMIA MUTATIONS (CD5, CD8, CD16, FR36/37, CD39, CD44, IVSI-6 AND IVSI 3' END- 25BP) IN THALASSEMIC PATIENTS IN ISFAHAN USING ARMS-PCR,” JOURNAL OF ISFAHAN MEDICAL SCHOOL (I.U.M.S), vol. 23, no. 76, pp. 1–7, 2005, [Online]. Available: https://sid.ir/paper/51098/en

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