MOLECULAR INVESTIGATION OF BETA GLOBIN GENE CLUSTER DELETIONS IN ANEMIC PATIENTS REFERRED TO THE GENETIC LABORATORY OF AMIRKOLA CHILDREN HOSPITAL (IRAN)

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AHMADI FARD M.R.; AKHAVAN NIAKI H.; MAHMOODI NESHELI H.; BANIHASHEMI A.; AZIZI M.; MOUSAVI N.; POURBAGHER R.; YOUSEFI KAMANGARI R.

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Journal: JOURNAL OF BABOL UNIVERSITY OF MEDICAL SCIENCES (JBUMS) Year:2012 | Volume:14 | Issue:3 (66) Page(s): 13-18

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Title

MOLECULAR INVESTIGATION OF BETA GLOBIN GENE CLUSTER DELETIONS IN ANEMIC PATIENTS REFERRED TO THE GENETIC LABORATORY OF AMIRKOLA CHILDREN HOSPITAL (IRAN)

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Keywords

DELTA BETA THALASSEMIAQ2

PCRQ2

HEMOGLOBIN LEPOREQ2

Abstract

BACKGROUND AND OBJECTIVE: Hereditary persistence of fetal hemoglobin (HPFH) and db-thalassemia are heterogeneous disorders characterized by elevated levels of fetal hemoglobin (Hb F). Deletional mutations are responsible for the disease and are not recognized by routine hematological tests. The aim of this study was to perform a molecular characterization of beta globin gene cluster deletions in anemic patients referred to the genetic laboratory of Amirkola children hospital.METHODS: In this cross sectional study, thirty patients (14 females and 16 males) with mild microcytic hypochromic anemia with hematologic index (MCV<80 fl, MCH<27 pg, variable HbA2 and high level of Hb F) were tested for the 3 common delta beta deletional mutations: Sicilian db-thalassemia, Asian-lndian inversion-deletion gdb-thalassemia and HEMOGLOBIN LEPORE using Gap-PCR technique.FINDINGS: Sicilian, Asian-lndian gdb-thalassemia deletions as well as the Hb Lepore were found respectively in 6 (20%), 6 (20%) and 1 (3.33%) patients and 17 cases remained uncharacterized.CONCLUSION: Regarding the presence of different forms of deletion in beta globin gene cluster in this region, molecular characterization of these mutations is important in at risk couples presenting microcytic anemia and should be considered in premarital screening and prenatal diagnosis centers for a more efficient thalassemia major prevention program.

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APA: Copy

AHMADI FARD, M.R., AKHAVAN NIAKI, H., MAHMOODI NESHELI, H., BANIHASHEMI, A., AZIZI, M., MOUSAVI, N., POURBAGHER, R., & YOUSEFI KAMANGARI, R.. (2012). MOLECULAR INVESTIGATION OF BETA GLOBIN GENE CLUSTER DELETIONS IN ANEMIC PATIENTS REFERRED TO THE GENETIC LABORATORY OF AMIRKOLA CHILDREN HOSPITAL (IRAN). JOURNAL OF BABOL UNIVERSITY OF MEDICAL SCIENCES (JBUMS), 14(3 (66)), 13-18. SID. https://sid.ir/paper/73517/en

Vancouver: Copy

AHMADI FARD M.R., AKHAVAN NIAKI H., MAHMOODI NESHELI H., BANIHASHEMI A., AZIZI M., MOUSAVI N., POURBAGHER R., YOUSEFI KAMANGARI R.. MOLECULAR INVESTIGATION OF BETA GLOBIN GENE CLUSTER DELETIONS IN ANEMIC PATIENTS REFERRED TO THE GENETIC LABORATORY OF AMIRKOLA CHILDREN HOSPITAL (IRAN). JOURNAL OF BABOL UNIVERSITY OF MEDICAL SCIENCES (JBUMS)[Internet]. 2012;14(3 (66)):13-18. Available from: https://sid.ir/paper/73517/en

IEEE: Copy

M.R. AHMADI FARD, H. AKHAVAN NIAKI, H. MAHMOODI NESHELI, A. BANIHASHEMI, M. AZIZI, N. MOUSAVI, R. POURBAGHER, and R. YOUSEFI KAMANGARI, “MOLECULAR INVESTIGATION OF BETA GLOBIN GENE CLUSTER DELETIONS IN ANEMIC PATIENTS REFERRED TO THE GENETIC LABORATORY OF AMIRKOLA CHILDREN HOSPITAL (IRAN),” JOURNAL OF BABOL UNIVERSITY OF MEDICAL SCIENCES (JBUMS), vol. 14, no. 3 (66), pp. 13–18, 2012, [Online]. Available: https://sid.ir/paper/73517/en

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