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Prevalence of Beta-Thalassemia Trait Among Students of the University College of Science and Technology-Palestine

Received: 22 March 2016    Accepted: 31 March 2016    Published: 15 April 2016
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Abstract

Thalassemias are a group of recessively inherited genetic disorders mostly common in the Mediterranean, the equatorial and near equatorial regions of Africa and Asia. Large number of mutations cause abnormal globin gene expression and result in complete absence or reduction of globin chain synthesis which lead to thalassemia. β-thalassemia is the result of deficient or absent synthesis of β-globin chains, leading to excess α chains. This study was conducted in order to determine the prevalence of β-thalassemia trait among students of University College of Science and Technology (UCST) in Khan Younis, Gaza Strip-Palestine. Allele Specific PCR (ASPCR) was used to determine the intervening sequence IVSI-6 (T →C) and IVSI-110 (G →A) mutations. The study population consisted of 348 subjects recruited from the UCST (144 males: 41% and 204 females: 59%). Blood samples were collected in EDTA tube for CBC. Mentzer index was calculated for all samples. Blood film was done and stained using Giemza stain. DNA was isolated from 12 samples that had normal RBCs and low MCV and whose Mentzer index was >13. These samples were subjected to Allele Specific PCR in order to detect IVSI-6 (T →C) and IVSI-110 (G →A) mutations. The hemoglobin level in females was found to be about 20% less than the level recorded in males (11.40±1.01 vs 14.30±0.79 g/dl). The results also revealed that there were significant differences in all measured CBC parameters and indices between males and females except that for WBC, RBC, MCHC and PLT. IVSI-6 (T →C) mutation was detected only in two samples and both were heterozygous. IVSI-110 (G →A) mutation was not detected in this study. The present results showed that the case of β-thalassemia carrier have normal RBC, MCH, Hb and normal Mentzer index which could be missed in routine screening test.

Published in American Journal of Life Sciences (Volume 4, Issue 2)
DOI 10.11648/j.ajls.20160402.14
Page(s) 40-46
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This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

β- thalassemia Trait, Allele Specific PCR (ASPCR), Mentzer Index

References
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[2] M. Honarbakhshi and H. Rahmanpour, “The prevalence of thalassemia minor and recognize carriers for prevention of thalassemia in Tarem Oolia region”, Scientific Journal of Zanjan Medical University, 1377(23), pp 21-27, 2012.
[3] S. Mok, M Imwong. and M. J. Mackinnon, “Artemisinin resistance in Plasmodium falciparum is associated with an altered temporal pattern of transcription”, BMC Genomics, 12(3), pp 391-405, 2011.
[4] F. Collins and S. Weissman, “The molecular genetics of human hemoglobin”, Progress in nucleic acid research and molecular biology, 31(8), pp 315-421, 1984.
[5] A. Cao and R. Galanello, “Beta-thalassemia”, Genetics In Medicine, 12(2), pp 61-76, 2010.
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[7] S. L. Thein, “Genetic modifiers of β-thalassemia”, Hematologica, 124(3), pp 649-60, 2005.
[8] M. Valko, D. Leibfritz and J. Moncol, “Free radicals and antioxidants in normal physiological functions and human disease”, The International Journal of Biochemistry & Cell Biology, 39(1), pp 44-84, 2007.
[9] A. Ceriello, “Possible role of oxidative stress in the pathogenesis of hypertension”, Review, Diabetes Care, 31(2), pp 181-184, 2008.
[10] R. Galanello, A. Mosca, R. Paleari, G. Ivaldi, P. Giordano, “The role of haemoglobin A2 testing in the diagnosis of thalassemias and related haemoglobinopathies”, Journal of Clinical Pathology, 62(1), pp 13-20, 2009.
[11] D. Filon, V. Oron, R. Shawa, E. Elborno, K. Najjar, T. Tulchinsky, E. Rachmilewitz, D. Rund, A. Oppenheim, “Spectrum of β-thalassemia mutations in the Gaza Area”, Human Mutation 5, pp 351-353, 1995.
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[14] Z. Harara, “Occurrence of hereditary hemochromatosis among β-thalassemia intermediate and β-thalassemia minor subjects in Gaza Strip - Palestine”, MSc thesis, Islamic University of Gaza, 2006.
[15] S. Elhams, “Immunological assessment of B-thalassemic major children aged 5-12 years old attending Abd El-Aziz El-Rantisy Hospital in Gaza Strip”, MSc Thesis, Islamic University of Gaza, Palestine, 2010.
[16] Z. Habib, “Hematological criteria in hemoglobinopathy-free adult Egyptians” Hereditas, 95(23), pp 331-332, 2009.
[17] S. Al-Sweedan, M. Alhaj, “The effect of low altitude on blood count parameters from the department of Pediatrics, Jordan University of Science and Technology, Irbid, Jordan”, Hematology/Oncology and Stem Cell Therapy, 5(3), pp 158-161, 2012.
[18] L. Dennis, M. Tein, T. Lau, C. Haines, T. Leung, P. Poon, J. Wainscoat, P. Johnson, A. Chang, N. Hjelm, “Quantitative analysis of fetal DNA in maternal plasma and serum: Implications for noninvasive prenatal diagnosis”, The American Journal of Human Genetics, 62(4), pp 768–775, 1998.
[19] L. Zahed, “The spectrum of α-thalassemia mutations in the Arab populations”, Biomedicine and Biotechnology Journal, 1(3), pp 129-132, 2001.
[20] S. El-Gawhary, S. El-Shafie, M. Niazi, M. Aziz, A. El-Beshlawy, “Study of β-thalassemia mutations using the polymerase chain reaction-amplification refractory mutation system and direct DNA sequencing techniques in a group of Egyptian thalassemia patients”, Hemoglobin, 31(1), pp 63-69, 2007.
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    Lamia'a Sobhi Saqer, Mona Ziad Almasri, Shahed Awad Almasri, Zahraa Akram Almasri. (2016). Prevalence of Beta-Thalassemia Trait Among Students of the University College of Science and Technology-Palestine. American Journal of Life Sciences, 4(2), 40-46. https://doi.org/10.11648/j.ajls.20160402.14

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    Lamia'a Sobhi Saqer; Mona Ziad Almasri; Shahed Awad Almasri; Zahraa Akram Almasri. Prevalence of Beta-Thalassemia Trait Among Students of the University College of Science and Technology-Palestine. Am. J. Life Sci. 2016, 4(2), 40-46. doi: 10.11648/j.ajls.20160402.14

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    AMA Style

    Lamia'a Sobhi Saqer, Mona Ziad Almasri, Shahed Awad Almasri, Zahraa Akram Almasri. Prevalence of Beta-Thalassemia Trait Among Students of the University College of Science and Technology-Palestine. Am J Life Sci. 2016;4(2):40-46. doi: 10.11648/j.ajls.20160402.14

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  • @article{10.11648/j.ajls.20160402.14,
      author = {Lamia'a Sobhi Saqer and Mona Ziad Almasri and Shahed Awad Almasri and Zahraa Akram Almasri},
      title = {Prevalence of Beta-Thalassemia Trait Among Students of the University College of Science and Technology-Palestine},
      journal = {American Journal of Life Sciences},
      volume = {4},
      number = {2},
      pages = {40-46},
      doi = {10.11648/j.ajls.20160402.14},
      url = {https://doi.org/10.11648/j.ajls.20160402.14},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajls.20160402.14},
      abstract = {Thalassemias are a group of recessively inherited genetic disorders mostly common in the Mediterranean, the equatorial and near equatorial regions of Africa and Asia. Large number of mutations cause abnormal globin gene expression and result in complete absence or reduction of globin chain synthesis which lead to thalassemia. β-thalassemia is the result of deficient or absent synthesis of β-globin chains, leading to excess α chains. This study was conducted in order to determine the prevalence of β-thalassemia trait among students of University College of Science and Technology (UCST) in Khan Younis, Gaza Strip-Palestine. Allele Specific PCR (ASPCR) was used to determine the intervening sequence IVSI-6 (T →C) and IVSI-110 (G →A) mutations. The study population consisted of 348 subjects recruited from the UCST (144 males: 41% and 204 females: 59%). Blood samples were collected in EDTA tube for CBC. Mentzer index was calculated for all samples. Blood film was done and stained using Giemza stain. DNA was isolated from 12 samples that had normal RBCs and low MCV and whose Mentzer index was >13. These samples were subjected to Allele Specific PCR in order to detect IVSI-6 (T →C) and IVSI-110 (G →A) mutations. The hemoglobin level in females was found to be about 20% less than the level recorded in males (11.40±1.01 vs 14.30±0.79 g/dl). The results also revealed that there were significant differences in all measured CBC parameters and indices between males and females except that for WBC, RBC, MCHC and PLT. IVSI-6 (T →C) mutation was detected only in two samples and both were heterozygous. IVSI-110 (G →A) mutation was not detected in this study. The present results showed that the case of β-thalassemia carrier have normal RBC, MCH, Hb and normal Mentzer index which could be missed in routine screening test.},
     year = {2016}
    }
    

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  • TY  - JOUR
    T1  - Prevalence of Beta-Thalassemia Trait Among Students of the University College of Science and Technology-Palestine
    AU  - Lamia'a Sobhi Saqer
    AU  - Mona Ziad Almasri
    AU  - Shahed Awad Almasri
    AU  - Zahraa Akram Almasri
    Y1  - 2016/04/15
    PY  - 2016
    N1  - https://doi.org/10.11648/j.ajls.20160402.14
    DO  - 10.11648/j.ajls.20160402.14
    T2  - American Journal of Life Sciences
    JF  - American Journal of Life Sciences
    JO  - American Journal of Life Sciences
    SP  - 40
    EP  - 46
    PB  - Science Publishing Group
    SN  - 2328-5737
    UR  - https://doi.org/10.11648/j.ajls.20160402.14
    AB  - Thalassemias are a group of recessively inherited genetic disorders mostly common in the Mediterranean, the equatorial and near equatorial regions of Africa and Asia. Large number of mutations cause abnormal globin gene expression and result in complete absence or reduction of globin chain synthesis which lead to thalassemia. β-thalassemia is the result of deficient or absent synthesis of β-globin chains, leading to excess α chains. This study was conducted in order to determine the prevalence of β-thalassemia trait among students of University College of Science and Technology (UCST) in Khan Younis, Gaza Strip-Palestine. Allele Specific PCR (ASPCR) was used to determine the intervening sequence IVSI-6 (T →C) and IVSI-110 (G →A) mutations. The study population consisted of 348 subjects recruited from the UCST (144 males: 41% and 204 females: 59%). Blood samples were collected in EDTA tube for CBC. Mentzer index was calculated for all samples. Blood film was done and stained using Giemza stain. DNA was isolated from 12 samples that had normal RBCs and low MCV and whose Mentzer index was >13. These samples were subjected to Allele Specific PCR in order to detect IVSI-6 (T →C) and IVSI-110 (G →A) mutations. The hemoglobin level in females was found to be about 20% less than the level recorded in males (11.40±1.01 vs 14.30±0.79 g/dl). The results also revealed that there were significant differences in all measured CBC parameters and indices between males and females except that for WBC, RBC, MCHC and PLT. IVSI-6 (T →C) mutation was detected only in two samples and both were heterozygous. IVSI-110 (G →A) mutation was not detected in this study. The present results showed that the case of β-thalassemia carrier have normal RBC, MCH, Hb and normal Mentzer index which could be missed in routine screening test.
    VL  - 4
    IS  - 2
    ER  - 

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Author Information
  • Medical Sciences Department, University College of Science and Technology, Gaza Strip, Palestine

  • Medical Sciences Department, University College of Science and Technology, Gaza Strip, Palestine

  • Medical Sciences Department, University College of Science and Technology, Gaza Strip, Palestine

  • Medical Sciences Department, University College of Science and Technology, Gaza Strip, Palestine

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