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Increased Percentage of β-Thalassemia Carriers in the Region of South-East Rodopi and Kardzali Near Greece and the Mediterranean

Received: 16 June 2021     Accepted: 2 July 2021     Published: 30 September 2021
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Abstract

Objectives: In a brief summary we present the basic aspects of the of the hemoglobinopathies in the population of the South-East Rodopi within the Bulgarian territory and we report the preliminary results for the identification of β-thalassemia carriers by measuring the expression of the HbA fractions. Design and methods: Separation and measurement of the Hb fractions in blood samples collected among the multi-ethnic Bulgarian population using different methods. Results: By using a cut of 3.2% HbA2 we have found 9.77% carriers of point mutations defects among a group of 532 patients of different ethnic origin. All patients’ carriers have also increased HbF. Most frequent point mutation is IVS I nt 110 (G>A). Discussion: All methods summarized in this paper provide identification at practically high sensitivity and specificity. However, all methods should be followed by routine parent's analysis to confirm the provisional results. Taking into consideration the specific conditions of each patient and the HbA expression, we believe carriers of β-thalassemia can be preselected with a reasonable degree of sensitivity and be confirmed by parent analysis. It is important to consider this uneven distribution of the mutations in the hemoglobin being increased in our region as opposed to the overall carriers in the territory of Bulgaria and Europe.

Published in International Journal of Cardiovascular and Thoracic Surgery (Volume 7, Issue 3)
DOI 10.11648/j.ijcts.20210703.12
Page(s) 41-45
Creative Commons

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), 2021. Published by Science Publishing Group

Keywords

Mediterranean Anemia, β-Thalassemia, HbA2, Hemoglobin Mutation Carriers

References
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[15] Violeta Yordanova, Todor Tcherkezov - Pilot study of b-thalassemia carriers in the region of Kardzali and surroundings - medical and social aspects Molecular-genetics laboratory MBAL “D-r Atanas Dafovski” Kardzali, Bulgaria; EIGHTH INTERNATIONAL MEDICAL CONGRESS OF THE SOUTHEAST EUROPEN MEDICAL FORUM (SEEMF) Dates: 07–10 September 2017 Venue: Athens, Greece.
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  • APA Style

    Violeta Yordanova, Todor Tcherkezov. (2021). Increased Percentage of β-Thalassemia Carriers in the Region of South-East Rodopi and Kardzali Near Greece and the Mediterranean. International Journal of Cardiovascular and Thoracic Surgery, 7(3), 41-45. https://doi.org/10.11648/j.ijcts.20210703.12

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    ACS Style

    Violeta Yordanova; Todor Tcherkezov. Increased Percentage of β-Thalassemia Carriers in the Region of South-East Rodopi and Kardzali Near Greece and the Mediterranean. Int. J. Cardiovasc. Thorac. Surg. 2021, 7(3), 41-45. doi: 10.11648/j.ijcts.20210703.12

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    AMA Style

    Violeta Yordanova, Todor Tcherkezov. Increased Percentage of β-Thalassemia Carriers in the Region of South-East Rodopi and Kardzali Near Greece and the Mediterranean. Int J Cardiovasc Thorac Surg. 2021;7(3):41-45. doi: 10.11648/j.ijcts.20210703.12

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  • @article{10.11648/j.ijcts.20210703.12,
      author = {Violeta Yordanova and Todor Tcherkezov},
      title = {Increased Percentage of β-Thalassemia Carriers in the Region of South-East Rodopi and Kardzali Near Greece and the Mediterranean},
      journal = {International Journal of Cardiovascular and Thoracic Surgery},
      volume = {7},
      number = {3},
      pages = {41-45},
      doi = {10.11648/j.ijcts.20210703.12},
      url = {https://doi.org/10.11648/j.ijcts.20210703.12},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijcts.20210703.12},
      abstract = {Objectives: In a brief summary we present the basic aspects of the of the hemoglobinopathies in the population of the South-East Rodopi within the Bulgarian territory and we report the preliminary results for the identification of β-thalassemia carriers by measuring the expression of the HbA fractions. Design and methods: Separation and measurement of the Hb fractions in blood samples collected among the multi-ethnic Bulgarian population using different methods. Results: By using a cut of 3.2% HbA2 we have found 9.77% carriers of point mutations defects among a group of 532 patients of different ethnic origin. All patients’ carriers have also increased HbF. Most frequent point mutation is IVS I nt 110 (G>A). Discussion: All methods summarized in this paper provide identification at practically high sensitivity and specificity. However, all methods should be followed by routine parent's analysis to confirm the provisional results. Taking into consideration the specific conditions of each patient and the HbA expression, we believe carriers of β-thalassemia can be preselected with a reasonable degree of sensitivity and be confirmed by parent analysis. It is important to consider this uneven distribution of the mutations in the hemoglobin being increased in our region as opposed to the overall carriers in the territory of Bulgaria and Europe.},
     year = {2021}
    }
    

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  • TY  - JOUR
    T1  - Increased Percentage of β-Thalassemia Carriers in the Region of South-East Rodopi and Kardzali Near Greece and the Mediterranean
    AU  - Violeta Yordanova
    AU  - Todor Tcherkezov
    Y1  - 2021/09/30
    PY  - 2021
    N1  - https://doi.org/10.11648/j.ijcts.20210703.12
    DO  - 10.11648/j.ijcts.20210703.12
    T2  - International Journal of Cardiovascular and Thoracic Surgery
    JF  - International Journal of Cardiovascular and Thoracic Surgery
    JO  - International Journal of Cardiovascular and Thoracic Surgery
    SP  - 41
    EP  - 45
    PB  - Science Publishing Group
    SN  - 2575-4882
    UR  - https://doi.org/10.11648/j.ijcts.20210703.12
    AB  - Objectives: In a brief summary we present the basic aspects of the of the hemoglobinopathies in the population of the South-East Rodopi within the Bulgarian territory and we report the preliminary results for the identification of β-thalassemia carriers by measuring the expression of the HbA fractions. Design and methods: Separation and measurement of the Hb fractions in blood samples collected among the multi-ethnic Bulgarian population using different methods. Results: By using a cut of 3.2% HbA2 we have found 9.77% carriers of point mutations defects among a group of 532 patients of different ethnic origin. All patients’ carriers have also increased HbF. Most frequent point mutation is IVS I nt 110 (G>A). Discussion: All methods summarized in this paper provide identification at practically high sensitivity and specificity. However, all methods should be followed by routine parent's analysis to confirm the provisional results. Taking into consideration the specific conditions of each patient and the HbA expression, we believe carriers of β-thalassemia can be preselected with a reasonable degree of sensitivity and be confirmed by parent analysis. It is important to consider this uneven distribution of the mutations in the hemoglobin being increased in our region as opposed to the overall carriers in the territory of Bulgaria and Europe.
    VL  - 7
    IS  - 3
    ER  - 

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Author Information
  • Molecular Diagnostics Unit, MPHAT “Dr. Atnas Dafovski”, Kardzali, Bulgaria

  • Department of Public Health, Medical University, Sofia, Bulgaria

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