التفاصيل البيبلوغرافية
| العنوان: |
Study of type and frequency of Alfa-thalassemia mutations in a cohort of 3,823 patients from Isfahan Province, Iran |
| المؤلفون: |
Tavakoli Afshar, Parvaneh, Taherian, Zohreh, Nouri, Negar, Zaker, Erfan, Asadi, Sara, Rami, Farzaneh, Bakhtiari, Roya, Hosseinzadeh, Majid, Salehi, Mansoor |
| المصدر: |
Hematology in Clinical Practice; Vol 14 (2023): Continuous Publishing; 24-29 |
| بيانات النشر: |
Via Medica |
| سنة النشر: |
2023 |
| المجموعة: |
Via Medica Journals |
| مصطلحات موضوعية: |
thalassemia, alpha-thalassemia, screening, prenatal diagnosis (PND), genetic counseling |
| الوصف: |
Introduction: Alpha-thalassemia (α-thalassemia) is caused by a range of mutations in the α-globin gene resulting in the complete reduction or absence of α-globin chain production. Material and methods: This study assessed the presence of α-thalassemia in 3,823 patients referred to Al-Zahra Hospital, Isfahan, Iran during a 10-year period (from 2012 to 2022). These patients experienced anaemia for more than ten years but had not the full indication for β-thalassemia or iron deficiency. Results: Based on the present assessment, 3,483 cases out of 3,823 suspicious cases had an α-Thalassemia-involved mutation (91.1%). According to the results, the most common detected mutation in the α-thalassemia carriers of Isfahan province was –α3.7 with a frequency of 81.58% (3,119 individuals), followed by α5nt (–TGAGG) (3.71% in total or 39.01% between 364 patients), polyadenylation signal mutations (polyA2) (14.28% between 364 patients), αcodon 19 (GCG4GC–, a2) (11.53%), –α3.7/–α3.7 (11.53%), –α20.5 (7.69%), Hb Constant Spring [Hb CS, a142, Stop →Gln; HBA2: c.427T4C] (5.7%), α4.2 (5.49) and – –MED (4.67%). Conclusion: The results of this investigation may be valuable for designing a program for carrier screening, premarital genetic counselling, and prenatal diagnosis in the Isfahan province. |
| نوع الوثيقة: |
other/unknown material |
| وصف الملف: |
application/pdf; text/html |
| اللغة: |
English |
| العلاقة: |
https://journals.viamedica.pl/hematology_in_clinical_practice/article/view/92432Test |
| DOI: |
10.5603/HCP.2023.0005 |
| الإتاحة: |
https://doi.org/10.5603/HCP.2023.0005Test
https://journals.viamedica.pl/hematology_in_clinical_practice/article/view/92432Test |
| حقوق: |
In sending the manuscript the author(s) confirm(s) that (s)he has (they have) not previously submitted it to another journal (expect for abstracts of no more than 400 words) or published it elsewhere. The author(s) also agree(s), if and when the manuscript is accepted for publication, to automatic and free transfer of copyright to the Publisher allowing for the publication and distribution of the material submitted in all available forms and fields of exploitation. The author(s) accept(s) that the manuscript will not be published elsewhere in any language without the written consent of the copyright holder, i.e. the Publisher. |
| رقم الانضمام: |
edsbas.CDB4FEF3 |
| قاعدة البيانات: |
BASE |
