THE STUDY OF RELATIONSHIPS BETWEEN β-GLOBIN GENE NLUTATIONS IN β-THALASSAEMIA PATIENTS, IN RESPONSE TO HYDROXYUREA TREATMENT

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HASHEMI SOUTEH S.M.B.; AKHAVAN NIAKI H.; KOUSARIAN M.; ALIASGHARIAN A.; MOJTAHED ZADEH FEREYDOUN; KARAMI HOSSEIN; BANI HASHEMI ALI; ZEYNALI S.

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Journal: JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES Year:2008 | Volume:18 | Issue:64 Page(s): 1-10

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Title

THE STUDY OF RELATIONSHIPS BETWEEN β-GLOBIN GENE NLUTATIONS IN β-THALASSAEMIA PATIENTS, IN RESPONSE TO HYDROXYUREA TREATMENT

Author(s)

Keywords

β-THALASSAEMIAQ4

HYDROXYUREAQ3

MUTATIONQ3

Abstract

Background and Purpose: b-thalassaemia is the most frequent inherited disorder in the world, especially in Iran and Mazandaran Province. It is caused by mulation in b-globin gene on chromosome 11 with more than 150 different mulations causing b-thalassaemia, has been identified in the b-globin gene to date. HYDROXYUREA, is one of the drugs used in Thalassemia patient's treatment, however, it is not effective in all patients. The mechanisms of the hydroxyuea effect in not clear yet. This study compared different b-globin gene MUTATIONs in b-thalassaemia patients who were referred to the Thalassemia Research Center in Sari in two groups, good responder and non-responder, to the HYDROXYUREA.Materials and Methods: This was a case-control study, comparing two groups of 30 thalassaemic patients who received HYDROXYUREA. Two groups were included, 30 good responders to HYDROXYUREA treatment (control) and 30 who did not respond to the treatment (case). First, DNA was extracted from peripheral blood. Then, two different methods for MUTATION detection were used. In the Thalassaemia Research Center in Sari, MUTATIONs in 60 patients were identified using ARMS-PCR. Also the results were confirmed in Genetic laboratory of Amirkola, using two MUTATION detection methods, reverse-dot blot hybridization and ARMS-PCR.Results: In the group of good responder (control), the average patient's age were 28/1 ± 7/78 years, and the average age at the onset of blood transfusion was reported to be 8/5 ± 8/56 year. In this group, the mean comparison of the hemoglobin level and red blood size (MCV) prior and after drug consumption were statistically significant. In the group of non-responder (case), the mean age was 21,3 ± 6.43, the manage starting blood transfusions was 3.3±3.75,andthemeanof drug consumption was 2.3±0.8 months. From the MUTATIONs identified, IVSII-IG>A was the most common type in both case and control group, while of 30 of control group, 22 individuals were homozygous, and 7 individuals were heterozygous for this MUTATION (frequency % 42.5). For the 30 case patients, 11 individuals were homozygous, while 11 were heterozygous (frequency % 27.5). Comparison between two groups, case and control group, were statistically significance (P<0.008).Conclusion: The correlations of IVSII-IG>Amputation in good responder patients to HYDROXYUREA as compared to the non responder group, is significant and similar to the previous findings.

Cites

ASSESSMENT OF DEMOGRAPHIC, CLINICAL AND LABORATORY STATUS OF PATIENTS WITH THALASSEMIA MAJOR AND INTERMEDIA REFERRED TO THALASSEMIA RESEARCH CENTER IN SARI, IRAN, DURING 2007-2009

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APA: Copy

HASHEMI SOUTEH, S.M.B., AKHAVAN NIAKI, H., KOUSARIAN, M., ALIASGHARIAN, A., MOJTAHED ZADEH, FEREYDOUN, KARAMI, HOSSEIN, BANI HASHEMI, ALI, & ZEYNALI, S.. (2008). THE STUDY OF RELATIONSHIPS BETWEEN β-GLOBIN GENE NLUTATIONS IN β-THALASSAEMIA PATIENTS, IN RESPONSE TO HYDROXYUREA TREATMENT. JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES, 18(64), 1-10. SID. https://sid.ir/paper/44441/en

Vancouver: Copy

HASHEMI SOUTEH S.M.B., AKHAVAN NIAKI H., KOUSARIAN M., ALIASGHARIAN A., MOJTAHED ZADEH FEREYDOUN, KARAMI HOSSEIN, BANI HASHEMI ALI, ZEYNALI S.. THE STUDY OF RELATIONSHIPS BETWEEN β-GLOBIN GENE NLUTATIONS IN β-THALASSAEMIA PATIENTS, IN RESPONSE TO HYDROXYUREA TREATMENT. JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2008;18(64):1-10. Available from: https://sid.ir/paper/44441/en

IEEE: Copy

S.M.B. HASHEMI SOUTEH, H. AKHAVAN NIAKI, M. KOUSARIAN, A. ALIASGHARIAN, FEREYDOUN MOJTAHED ZADEH, HOSSEIN KARAMI, ALI BANI HASHEMI, and S. ZEYNALI, “THE STUDY OF RELATIONSHIPS BETWEEN β-GLOBIN GENE NLUTATIONS IN β-THALASSAEMIA PATIENTS, IN RESPONSE TO HYDROXYUREA TREATMENT,” JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES, vol. 18, no. 64, pp. 1–10, 2008, [Online]. Available: https://sid.ir/paper/44441/en

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