Presentation of two new mutations in the 3′untranslated region of the β-globin gene and evaluating the molecular spectrum of thalassemia mutations in the Mediterranean region of Turkey
| Autor: | Emre Dirican, Bahar Unlu Gul, Çiğdem El, Abdullah Arpaci, Oguzhan Ozcan, Sibel Elmacioglu, Hasan Emin Kaya, Gül İlhan |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
Male Proband congenital hereditary and neonatal diseases and abnormalities Adolescent Turkey Thalassemia Genetic counseling Prenatal diagnosis beta-Globins Biology medicine.disease_cause Polymorphism Single Nucleotide Young Adult 03 medical and health sciences 0302 clinical medicine Mutation Rate alpha-Thalassemia hemic and lymphatic diseases medicine Humans Point Mutation 3' Untranslated Regions Retrospective Studies Genetics Mutation Mediterranean Region beta-Thalassemia Genetic disorder Hematology General Medicine medicine.disease Hemoglobinopathy 030220 oncology & carcinogenesis Female Hemoglobin 030215 immunology |
| Zdroj: | Annals of Hematology. 100:1429-1438 |
| ISSN: | 1432-0584 0939-5555 |
| Popis: | Thalassemia is a common genetic disorder. We aimed to present thalassemia mutation data that covers a period of 7 years from the Mediterranean region of Turkey by comparing with hemoglobin indices and to contribute to prenatal diagnosis and genetic counseling studies which should be decided very quickly. In this study, in which a retrospective archive was scanned, the cases were first grouped as α and β thalassemia, and then β thalassemia mutations were examined in a total of 5 groups as UTR-Pro, Codon, IVS, β0, and β+. We have reached the family of the proband that analyzed their Hb indices and genetic mutation. All mutations were statistically compared with Hb indices, HbF, and HbA2. We have identified two new β thalassemia mutations that have the feature of not being defined previously [HBB:C*62 A>G. (3'UTR+1536 A>G) and HBB:C*1 G>A (3'UTR+1475 G>A)]. The most commonly encountered 23 mutations account for 74.7% of all mutations which is unlike the literature. In the β thalassemia group, 73 different mutations were detected. The most common β thalassemia mutation was HBB: c.93-21 G>A (IVS I-110 G>A) with a frequency of 19.72%. A statistically significant difference was found when comparing the mutation groups with Hb indices. We think that it may be useful to evaluate the mutations we have newly identified too together with the Hb indices especially in evaluating the carriers of thalassemia and it will contribute to prenatal diagnosis and genetic counseling studies which should be decided very quickly. |
| Databáze: | OpenAIRE |
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