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Xmn1 Polymorphism: A Silver Lining for β-thalassemia Patients.
Author(s)
Saba Irshad Institute of Biochemistry and Biotechnology, University of the Punjab, Lahore, Pakistan
Aruba Muhammad Institute of Biochemistry and Biotechnology, University of the Punjab, Lahore, Pakistan
Ammara Muazzam Institute of Biochemistry and Biotechnology, University of the Punjab, Lahore, Pakistan
Farah Sarfraz Anmol Institute of Biochemistry and Biotechnology, University of the Punjab, Lahore, Pakistan
Rehman Shahzad Institute of Biochemistry and Biotechnology, University of the Punjab, Lahore, Pakistan
Abstract
This research was intended to screen ß-Thalassemia Major patients for Xmn1 Polymorphism, accountable for increased Fetal Hemoglobin, an important ameliorating factor in minimizing disease severity. PCRRFLP was employed for securitizing Xmn1 polymorphism among thalassemia (Major) patients. Out of total 206 screened patients, sole Xmn1 homozygous (+/+) and heterozygous (-/+) case was reported with a band size of 418 bp, 230 bp and 641 bp, 418 bp, 230 bp respectively. Xmn1 restriction site was present at 158 bp upstream of the Gamma globin gene on chromosome 11 of positive patients (GenBank KY927385). Fetal hemoglobin level in Xmn1 (-/+) and (+/+) was 59.1% and 19% respectively which minimize their transfusion frequency to 30 days in comparison to 7-15 days in Xmn1 -/- patients. Hematological analysis of thalassemic patients revealed low Hb, WBCs and platelets counts in contrast to control. The reported polymorphism was meant to be lowering the frequency of blood transfusions and to some extent responsible for diminishing the disease burden among 'Thalassemia Major' patients.
Publication Details
Page(s) 295-300
DOI 10.17582/journal.pjz/2019.51.1.295.300
Published Journal: Pakistan Journal of Zoology, Volume: 51, Issue: 1, Year: 2019
Keywords
Keywords are not available for this article.
References
Aditya , R.,Verma , I.C.,Saxena , R.,Kaul , D.,Khanna , V.K., 2006.Relation of Xmn-1 polymorphism and ifve common Indian mutations of thalassaemia with phenotypic presentation in b-thalassaemia,JK Science 8 139 -143
Akhavan-Niaki , H.,Derakhshandeh-Peykar , P.,Banihashemi , A.,Mostafazadeh , A.,Asghari , B.,Ahmadifard , M.R.,Elmi , M.M., 2011.A comprehensive molecular characterization of beta thalassemia in a highly heterogeneous population,Blood Cells Mol. Dis 03 29 -32
Ali , N.,Ayyub , M.,Khan , S.A.,Ahmed , S.,Abbas , K.,Malik , H.S.,Tashfeen , S., 2014.Frequency of Gγ-globin promoter− 158 (C> T) XmnI polymorphism in patients with homozygous/ compound heterozygous beta thalassaemia,Hematol. Oncol. Stem Cell Ther 12 10 -15
Garner , C.,Tatu , T.,Game , L.,Cardon , L.R.,Spector,Farrall , M.,Thein , S.L., 2000.A candidate gene study of F cell levels in sibling pairs using a joint linkage and association analysis,GeneScreen 00001 9218 -14
Hanif , T.B.,Ahmed , S.,Anwar , J.,Kazmi , S.K.A., 2015.XmnI Polymorphism and disease severity in patients with beta thalassemia from northern Pakistan,J. Ayub med. Coll. Abbottabad 27 13 -16
Hardison , R.C.,Chui , D.H.,Giardine , B.,Riemer , C.,Patrinos , G.P.,Anagnou , N.,Miller , W.,Wajcman, 2002.HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server,Hum 19 225 -233
Ho , P.J.,G.W. , Luo,L.Y. , Weatherall,D.J. and Thein,S.L.,J.Haematol, 1998.Beta-thalassaemia intermedia: Is it possible consistently to predict phenotype from genotype? Br, 00519 2141 -78
Khelil , A.H.,Morinière , M.,Laradi , S.,Khelif , A.,Perrin , P.,Chibani , J. B.,Baklouti , F., 2010.Xmn I polymorphism associated with concomitant activation of G γ and A γ globin gene transcription on a β 0-thalassemia chromosome,Blood Cells Mol. Dis 11 133 -138
Miller , S.A.,Dykes , D.D.,Polesky , H.F.R.N., 1988.A simple salting out procedure for extracting DNA from human nucleated cells,Nucl. Acids Res 16 1215 -
Muncie,Jr. H.L,Campbell , J., 2009.Alpha and beta thalassemia,Am. Fam. Phys. 80 339 -344
Neishabury , M.,Zamani , F.,Keyhani , E.,Azarkeivan , A.,Abedini , S.S.,Eslami , M.S.,Kakroodi , S.T.,Vesiehsari , M.J.,Najmabadi, 2013.The influence of the BCL11A polymorphism on the phenotype of patients with beta thalassemia could be affected by the beta globin locus control region and/or the Xmn1-HBG2 genotypic background,Blood Cells Mol. Dis 02 80 -84
Origa , R., 2015.Beta-thalassemia,GeneReviews® -
Orkin , S.H.,Nathan , D.G.,Ginsburg , D.,Look , A.T.,Fisher , D.E.,Lux , S., 2008.Nathan and Oski's hematology of infancy and childhood e-book,Elsevier Health Sciences. -
Peri , K.G.,Gagnon , J.,Gagnon , C.,Bard,(C→ T), 1997.XmnI) DNA polymorphism in Gγ-Globin promoter with delayed switchover from fetal to adult hemoglobin synthesis,‎Pediatr. Res. 41 00006450 -217
Rund , D.,Rachmilewitz , E., 2005.,N. Engl. J. Med 353 1135 -1146
Sachdeva , A.,Raina , A.,Khanna , V.K.,Arya , S.C.,Yadav , S.P.,Verma , I., 2005.Genotype phenotype correlation in thalassemia syndromes and their correlation with Xmn-1 polymorphism, 106 3845 -
Sharma , D.C.,Arya , A.,Kishor , P.,Woike , P.,Bindal , J., 2017.Overview on thalassemias: A review article,Med. Res. Chronicles 4 325 -337
Sidell , B.D.,O'Brien , K.M., 2006.When bad things happen to good fish: The loss of hemoglobin and myoglobin expression in Antarctic icefishes,J. exp. Biol 209 1791 -1802
Usman , M.,Moinuddin , M.,Ghani , R., 2010.Molecular genetics of beta-thalassaemia syndrome in Pakistan/Génétique moléculaire de la bêtathalassémie au Pakistan, 16 972 -
Wong , Y.C.,George , E.,Tan , K.L.,Yap , S.F.,Chan , L.L.,Tan , M.A., 2006.Molecular characterisation and frequency of Gγ Xmn I polymorphism in Chinese and Malay β-thalassaemia patients in Malaysia,Malaysian J. Pathol. 28 17 -21
Wood , W.G., 2001.Hereditary persistance of fetal hemoglobin and β-thalassemia. In: Disorders of hemoglobin: Genetics, pathophysiology, and clinical management, 356 -
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