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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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Publishing House
2025-04-01
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| Series: | Acta Haematologica Oncologica Turcica |
| Subjects: | |
| 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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| Summary: | 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. |
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| ISSN: | 3061-9947 |