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

Violeta Yordanova; Todor Tcherkezov

doi:doi:10.11648/j.ijcts.20210703.12

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

Violeta Yordanova, Todor Tcherkezov

Published in International Journal of Cardiovascular and Thoracic Surgery (Volume 7, Issue 3)

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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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

Violeta Yordanova

Molecular Diagnostics Unit, MPHAT “Dr. Atnas Dafovski”, Kardzali, Bulgaria
Todor Tcherkezov

Department of Public Health, Medical University, Sofia, Bulgaria

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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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