Molecular and Hematological Characterization of α-Thalassemia in Denizli Province
Aim: Alpha thalassemia, a common monogenic disorder, occurs with defective synthesis of the α-globin chain and has a very wide clinical spectrum depending on the disorders in the globin genes. This study aims to determine the frequency of α-globin gene mutations in patients suspected of having alpha...
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| Format: | Article |
| Language: | English |
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Galenos Publishing House
2025-04-01
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| Series: | Acta Haematologica Oncologica Turcica |
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| Online Access: | https://www.actaoncologicaturcica.com/articles/molecular-and-hematological-characterization-of-a-thalassemia-in-denizli-province/doi/ahot.galenos.2025.2025-3-3 |
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| author | Derya Karaer Tuba Uğurlu Er Nevin Alayvaz Aslan Taner Durak |
| author_facet | Derya Karaer Tuba Uğurlu Er Nevin Alayvaz Aslan Taner Durak |
| author_sort | Derya Karaer |
| collection | DOAJ |
| description | Aim: Alpha thalassemia, a common monogenic disorder, occurs with defective synthesis of the α-globin chain and has a very wide clinical spectrum depending on the disorders in the globin genes. This study aims to determine the frequency of α-globin gene mutations in patients suspected of having alpha thalassemia in Denizli province and to evaluate the phenotypic effects of detected mutations.
Methods: A total of 93 patients (55 female, 38 male) with suspected alpha thalassemia based on anemia, family history, premarital screening and high-performance liquid chromatography results were analyzed for α-thalassemia gene deletions. DNA was isolated from peripheral blood samples, and the results were evaluated using the “Seqline Alpha Thalassemia Diagnostic Kit” to detect common α-globin gene deletions: large deletions of 3.7 kb (-α3.7), 4.2 kb (-α4.2), and 20.5 kb (-(α)20.5) in HBA1-2 genes, as well as MED1 (--MED) and SEA (--SEA).
Results: Among the 93 patients, mutations were detected in 38 patients, yielding a deletion detection rate of 40.9%. The most common mutation was -α3.7 (40.7%), followed by -(α)20.5 (17.1%), --MED (5.2%), and -α4.2 (2.6%). No - SEA deletions were identified.
Conclusion: This study represents the first molecular characterization of α-thalassemia in Denizli province, identifying four different α-thalassemia deletions and eight distinct genotypes. The findings provide valuable insights into the regional distribution and clinical implications of these mutations. |
| format | Article |
| id | doaj-art-97dee51784994d32b13c7aeb17846359 |
| institution | Kabale University |
| issn | 3061-9947 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | Acta Haematologica Oncologica Turcica |
| spelling | doaj-art-97dee51784994d32b13c7aeb178463592025-08-20T03:40:33ZengGalenos Publishing HouseActa Haematologica Oncologica Turcica3061-99472025-04-01581465010.4274/ahot.galenos.2025.2025-3-3Molecular and Hematological Characterization of α-Thalassemia in Denizli ProvinceDerya Karaer0https://orcid.org/0000-0002-1874-0109Tuba Uğurlu Er1https://orcid.org/0009-0001-9600-166XNevin Alayvaz Aslan2https://orcid.org/0000-0003-3292-8519Taner Durak3https://orcid.org/0000-0001-6143-1670Pamukkale University Faculty of Medicine, Department of Medical Genetics, Denizli, TürkiyePamukkale University Faculty of Medicine, Department of Medical Genetics, Denizli, TürkiyePamukkale University Faculty of Medicine, Department of Hematology, Denizli, TürkiyePamukkale University Faculty of Medicine, Department of Medical Genetics, Denizli, TürkiyeAim: Alpha thalassemia, a common monogenic disorder, occurs with defective synthesis of the α-globin chain and has a very wide clinical spectrum depending on the disorders in the globin genes. This study aims to determine the frequency of α-globin gene mutations in patients suspected of having alpha thalassemia in Denizli province and to evaluate the phenotypic effects of detected mutations. Methods: A total of 93 patients (55 female, 38 male) with suspected alpha thalassemia based on anemia, family history, premarital screening and high-performance liquid chromatography results were analyzed for α-thalassemia gene deletions. DNA was isolated from peripheral blood samples, and the results were evaluated using the “Seqline Alpha Thalassemia Diagnostic Kit” to detect common α-globin gene deletions: large deletions of 3.7 kb (-α3.7), 4.2 kb (-α4.2), and 20.5 kb (-(α)20.5) in HBA1-2 genes, as well as MED1 (--MED) and SEA (--SEA). Results: Among the 93 patients, mutations were detected in 38 patients, yielding a deletion detection rate of 40.9%. The most common mutation was -α3.7 (40.7%), followed by -(α)20.5 (17.1%), --MED (5.2%), and -α4.2 (2.6%). No - SEA deletions were identified. Conclusion: This study represents the first molecular characterization of α-thalassemia in Denizli province, identifying four different α-thalassemia deletions and eight distinct genotypes. The findings provide valuable insights into the regional distribution and clinical implications of these mutations.https://www.actaoncologicaturcica.com/articles/molecular-and-hematological-characterization-of-a-thalassemia-in-denizli-province/doi/ahot.galenos.2025.2025-3-3alpha thalassemiaalpha-globin genegene deletiongenotype-phenotype correlation |
| spellingShingle | Derya Karaer Tuba Uğurlu Er Nevin Alayvaz Aslan Taner Durak Molecular and Hematological Characterization of α-Thalassemia in Denizli Province Acta Haematologica Oncologica Turcica alpha thalassemia alpha-globin gene gene deletion genotype-phenotype correlation |
| title | Molecular and Hematological Characterization of α-Thalassemia in Denizli Province |
| title_full | Molecular and Hematological Characterization of α-Thalassemia in Denizli Province |
| title_fullStr | Molecular and Hematological Characterization of α-Thalassemia in Denizli Province |
| title_full_unstemmed | Molecular and Hematological Characterization of α-Thalassemia in Denizli Province |
| title_short | Molecular and Hematological Characterization of α-Thalassemia in Denizli Province |
| title_sort | molecular and hematological characterization of α thalassemia in denizli province |
| topic | alpha thalassemia alpha-globin gene gene deletion genotype-phenotype correlation |
| url | https://www.actaoncologicaturcica.com/articles/molecular-and-hematological-characterization-of-a-thalassemia-in-denizli-province/doi/ahot.galenos.2025.2025-3-3 |
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