Determination of Beta Thalassemia trait and abnormal Hemoglobin variant frequency
Introduction: Hemoglobinopathies are among the most common hereditary disorders globally, classified into thalassemias and abnormal hemoglobins. Abnormal hemoglobins arise from genetic alterations like point mutations, insertions, or deletions, with Hb S, Hb D, Hb C, and Hb E being the most prevalen...
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| Format: | Article |
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Emergency Department of Hospital San Pedro (Logroño, Spain)
2025-05-01
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| Series: | Iberoamerican Journal of Medicine |
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| Online Access: | https://doi.org/10.53986/ibjm.2025.0015 |
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| author | Miraç Seher Helvacı Melih Tekinay Okan Yılmaz Mustafa Şahin Öngen İpek Eren Vurgun Okan Dikker Hüseyin Dağ |
| author_facet | Miraç Seher Helvacı Melih Tekinay Okan Yılmaz Mustafa Şahin Öngen İpek Eren Vurgun Okan Dikker Hüseyin Dağ |
| author_sort | Miraç Seher Helvacı |
| collection | DOAJ |
| description | Introduction: Hemoglobinopathies are among the most common hereditary disorders globally, classified into thalassemias and abnormal hemoglobins. Abnormal hemoglobins arise from genetic alterations like point mutations, insertions, or deletions, with Hb S, Hb D, Hb C, and Hb E being the most prevalent in Turkey. Beta-thalassemia minor is characterized by reduced or absent synthesis of one beta-globin chain. High-performance liquid chromatography (HPLC) is widely used for screening, while genetic methods remain the gold standard for definitive diagnosis. The estimated frequency of beta-thalassemia traits in Turkey is 2–3%, and abnormal hemoglobins 0.95%. This study aimed to determine the frequency of beta-thalassemia traits and abnormal hemoglobins in a central laboratory.
Material and methods: Retrospective data from hemoglobin variant analyses conducted between November 1, 2020, and July 31, 2024, in the hospital’s central laboratory were collected via the Laboratory Information Management System (LIMS). Samples from patients aged 6 months to 99 years were included. Repeated samples and those from infants under 6 months (with high HbF) were excluded. Frequencies of Hb S, D, C, and E were calculated as a percentage of total tested samples. HbA2 > 3.5% was used to identify beta-thalassemia traits. Analyses were performed using a cation-exchange HPLC-based Adams HA-8180T system.
Results: A total of 223,609 samples were analyzed. Abnormal hemoglobins were found in 0.35% (800 cases): Hb S (0.15%), Hb D (0.13%), Hb C (0.05%), and Hb E (0.01%). Beta-thalassemia traits (HbA2 ≥ 3.6%) were found in 6,017 cases (2.69%).
Conclusions: Hb S was the most frequent abnormal variant. The frequency of abnormal hemoglobins was lower than literature reports, while beta-thalassemia traits matched reported rates. HPLC is valuable for screening, but genetic testing remains essential for definitive diagnosis. These findings contribute to better prediction of hemoglobinopathy prevalence. |
| format | Article |
| id | doaj-art-e6769b4a1837474db7e1fa5b53a7dce6 |
| institution | Kabale University |
| issn | 2695-5075 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Emergency Department of Hospital San Pedro (Logroño, Spain) |
| record_format | Article |
| series | Iberoamerican Journal of Medicine |
| spelling | doaj-art-e6769b4a1837474db7e1fa5b53a7dce62025-08-20T03:56:04ZengEmergency Department of Hospital San Pedro (Logroño, Spain)Iberoamerican Journal of Medicine2695-50752025-05-0173747710.53986/ibjm.2025.0015Determination of Beta Thalassemia trait and abnormal Hemoglobin variant frequencyMiraç Seher Helvacı0https://orcid.org/0009-0004-7708-9311Melih Tekinay1https://orcid.org/0009-0000-0238-8924Okan Yılmaz2https://orcid.org/0009-0000-5218-5551Mustafa Şahin3https://orcid.org/0000-0001-6073-563XÖngen İpek4https://orcid.org/0000-0002-2998-263XEren Vurgun5https://orcid.org/0000-0002-2288-1123Okan Dikker6https://orcid.org/0000-0002-9153-6139Hüseyin Dağ7https://orcid.org/0000-0001-7596-7687 University of Health Sciences, Istanbul Prof. Dr. Cemil Taşcıoğlu City Hospital, Department of Medical Biochemistry, Istanbul, Turkey University of Health Sciences, Istanbul Prof. Dr. Cemil Taşcıoğlu City Hospital, Department of Medical Biochemistry, Istanbul, Turkey University of Health Sciences, Istanbul Prof. Dr. Cemil Taşcıoğlu City Hospital, Department of Medical Biochemistry, Istanbul, TurkeyHitit University Faculty of Medicine, Department of Medical Biochemistry, Çorum, Turkey University of Health Sciences, Istanbul Prof. Dr. Cemil Taşcıoğlu City Hospital, Department of Medical Biochemistry, Istanbul, Turkey University of Health Sciences, Istanbul Prof. Dr. Cemil Taşcıoğlu City Hospital, Department of Medical Biochemistry, Istanbul, Turkey University of Health Sciences, Istanbul Prof. Dr. Cemil Taşcıoğlu City Hospital, Department of Medical Biochemistry, Istanbul, TurkeyUniversity of Health Sciences, Istanbul Prof. Dr. Cemil Taşcıoğlu City Hospital, Department of Pediatrics, Istanbul,TurkeyIntroduction: Hemoglobinopathies are among the most common hereditary disorders globally, classified into thalassemias and abnormal hemoglobins. Abnormal hemoglobins arise from genetic alterations like point mutations, insertions, or deletions, with Hb S, Hb D, Hb C, and Hb E being the most prevalent in Turkey. Beta-thalassemia minor is characterized by reduced or absent synthesis of one beta-globin chain. High-performance liquid chromatography (HPLC) is widely used for screening, while genetic methods remain the gold standard for definitive diagnosis. The estimated frequency of beta-thalassemia traits in Turkey is 2–3%, and abnormal hemoglobins 0.95%. This study aimed to determine the frequency of beta-thalassemia traits and abnormal hemoglobins in a central laboratory. Material and methods: Retrospective data from hemoglobin variant analyses conducted between November 1, 2020, and July 31, 2024, in the hospital’s central laboratory were collected via the Laboratory Information Management System (LIMS). Samples from patients aged 6 months to 99 years were included. Repeated samples and those from infants under 6 months (with high HbF) were excluded. Frequencies of Hb S, D, C, and E were calculated as a percentage of total tested samples. HbA2 > 3.5% was used to identify beta-thalassemia traits. Analyses were performed using a cation-exchange HPLC-based Adams HA-8180T system. Results: A total of 223,609 samples were analyzed. Abnormal hemoglobins were found in 0.35% (800 cases): Hb S (0.15%), Hb D (0.13%), Hb C (0.05%), and Hb E (0.01%). Beta-thalassemia traits (HbA2 ≥ 3.6%) were found in 6,017 cases (2.69%). Conclusions: Hb S was the most frequent abnormal variant. The frequency of abnormal hemoglobins was lower than literature reports, while beta-thalassemia traits matched reported rates. HPLC is valuable for screening, but genetic testing remains essential for definitive diagnosis. These findings contribute to better prediction of hemoglobinopathy prevalence.https://doi.org/10.53986/ibjm.2025.0015hemoglobinbeta thalassemia traitabnormal hemoglobin |
| spellingShingle | Miraç Seher Helvacı Melih Tekinay Okan Yılmaz Mustafa Şahin Öngen İpek Eren Vurgun Okan Dikker Hüseyin Dağ Determination of Beta Thalassemia trait and abnormal Hemoglobin variant frequency Iberoamerican Journal of Medicine hemoglobin beta thalassemia trait abnormal hemoglobin |
| title | Determination of Beta Thalassemia trait and abnormal Hemoglobin variant frequency |
| title_full | Determination of Beta Thalassemia trait and abnormal Hemoglobin variant frequency |
| title_fullStr | Determination of Beta Thalassemia trait and abnormal Hemoglobin variant frequency |
| title_full_unstemmed | Determination of Beta Thalassemia trait and abnormal Hemoglobin variant frequency |
| title_short | Determination of Beta Thalassemia trait and abnormal Hemoglobin variant frequency |
| title_sort | determination of beta thalassemia trait and abnormal hemoglobin variant frequency |
| topic | hemoglobin beta thalassemia trait abnormal hemoglobin |
| url | https://doi.org/10.53986/ibjm.2025.0015 |
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