PREVALENCE OF ß-THALASSEMIA MUTATIONS AMONG NORTHEASTERN IRANIAN POPULATION AND THEIR IMPACTS ON HEMATOLOGICAL INDICES AND APPLICATION OF PRENATAL DIAGNOSIS, A SEVEN-YEARS STUDY
Background and objective: ß-thalassemia results from a diverse range of mutations inside the hemoglobin subunit β (HBB) gene. In a study of β-thalassemia carriers and some of their at-risk fetuses in the Khorasan province of Iran we aimed to recognize the most common mutations in the region and to f...
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PAGEPress Publications
2018-07-01
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| Series: | Mediterranean Journal of Hematology and Infectious Diseases |
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| Online Access: | https://www.mjhid.org/index.php/mjhid/article/view/3392 |
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| author | Mohammad Ehsan Jaripour Kourosh Hayatigolkhatmi Vahid Iranmanesh Farhad Khadivi Zand Zahra Badiei Hamid Farhangi Ali Ghasemi Abdollah Banihashem Reza Jafarzadeh Esfehani Ariane Sadr-Nabavi |
| author_facet | Mohammad Ehsan Jaripour Kourosh Hayatigolkhatmi Vahid Iranmanesh Farhad Khadivi Zand Zahra Badiei Hamid Farhangi Ali Ghasemi Abdollah Banihashem Reza Jafarzadeh Esfehani Ariane Sadr-Nabavi |
| author_sort | Mohammad Ehsan Jaripour |
| collection | DOAJ |
| description | Background and objective: ß-thalassemia results from a diverse range of mutations inside the hemoglobin subunit β (HBB) gene. In a study of β-thalassemia carriers and some of their at-risk fetuses in the Khorasan province of Iran we aimed to recognize the most common mutations in the region and to find a possible link between these mutations and some of the relevant hematological indices.
Methods: Amplification-refractory mutation system-PCR (ARMS-PCR) was used to detect the typical HBB mutations among 1593 individuals, suspected of having a mutated HBB allele from March/2011 to January/2018. Sanger sequencing of HBB had been performed, where ARMS-PCR was uninformative. In some cases, reverse dot blot was utilized. Analysis of variance was used to compare parametric variables.
Results: Among 1273 ß-thalassemia carriers, the prevalence of the mutations were reported as follows: IVS-I-5 (42.03%), IVS-II-1 (11.23%), Codons 8/9 (4.79%), Codon 44 (4.56%), codon 15 (3.53%), Los Angeles (2.91%), Codon 5 (2.75%), IVS-I-110 (2.51%), -88 (2.20%) and other mutations were less than 2% of all of the reported mutations. 644 conceptions were subjected to prenatal diagnosis, using chorionic villus sampling. 118 cases were reported as normal. 352 cases were detected as carriers. 174 cases were diagnosed as affected. There was a significant difference in mean corpuscular volume and hemoglobin A2 levels between the 9 most commonly reported mutation types (p<0.001).
Conclusion: This study makes a reliable guide for ß-thalassemia diagnosis in the region. The possibility of a correlation between HBB mutations and hematological indices opens a gate of future investigations. |
| format | Article |
| id | doaj-art-d9e9d272f7464e4b9808e56afd273a8c |
| institution | DOAJ |
| issn | 2035-3006 |
| language | English |
| publishDate | 2018-07-01 |
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| series | Mediterranean Journal of Hematology and Infectious Diseases |
| spelling | doaj-art-d9e9d272f7464e4b9808e56afd273a8c2025-08-20T02:51:02ZengPAGEPress PublicationsMediterranean Journal of Hematology and Infectious Diseases2035-30062018-07-01101e2018042e201804210.4084/mjhid.2018.0421770PREVALENCE OF ß-THALASSEMIA MUTATIONS AMONG NORTHEASTERN IRANIAN POPULATION AND THEIR IMPACTS ON HEMATOLOGICAL INDICES AND APPLICATION OF PRENATAL DIAGNOSIS, A SEVEN-YEARS STUDYMohammad Ehsan Jaripour0Kourosh Hayatigolkhatmi1Vahid Iranmanesh2Farhad Khadivi Zand3Zahra Badiei4Hamid Farhangi5Ali Ghasemi6Abdollah Banihashem7Reza Jafarzadeh Esfehani8Ariane Sadr-Nabavi9Iranian Academic Center for Education, Culture and Research, (ACECR), Mashhad, Iran.Iranian Academic Center for Education, Culture and Research, (ACECR), Mashhad, Iran.Iranian Academic Center for Education, Culture and Research, (ACECR), Mashhad, Iran.Iranian Academic Center for Education, Culture and Research, (ACECR), Mashhad, Iran.Department of Pediatric Diseases, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.Department of Pediatric Diseases, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.Department of Pediatric Diseases, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.Department of Pediatric Diseases, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.Medical Genetics Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. Iranian Academic Center for Education, Culture and Research, (ACECR), Mashhad, Iran.Background and objective: ß-thalassemia results from a diverse range of mutations inside the hemoglobin subunit β (HBB) gene. In a study of β-thalassemia carriers and some of their at-risk fetuses in the Khorasan province of Iran we aimed to recognize the most common mutations in the region and to find a possible link between these mutations and some of the relevant hematological indices. Methods: Amplification-refractory mutation system-PCR (ARMS-PCR) was used to detect the typical HBB mutations among 1593 individuals, suspected of having a mutated HBB allele from March/2011 to January/2018. Sanger sequencing of HBB had been performed, where ARMS-PCR was uninformative. In some cases, reverse dot blot was utilized. Analysis of variance was used to compare parametric variables. Results: Among 1273 ß-thalassemia carriers, the prevalence of the mutations were reported as follows: IVS-I-5 (42.03%), IVS-II-1 (11.23%), Codons 8/9 (4.79%), Codon 44 (4.56%), codon 15 (3.53%), Los Angeles (2.91%), Codon 5 (2.75%), IVS-I-110 (2.51%), -88 (2.20%) and other mutations were less than 2% of all of the reported mutations. 644 conceptions were subjected to prenatal diagnosis, using chorionic villus sampling. 118 cases were reported as normal. 352 cases were detected as carriers. 174 cases were diagnosed as affected. There was a significant difference in mean corpuscular volume and hemoglobin A2 levels between the 9 most commonly reported mutation types (p<0.001). Conclusion: This study makes a reliable guide for ß-thalassemia diagnosis in the region. The possibility of a correlation between HBB mutations and hematological indices opens a gate of future investigations.https://www.mjhid.org/index.php/mjhid/article/view/3392ß-thalassemia, mutation prevalence, complete blood count, prenatal diagnosis, Khorasan |
| spellingShingle | Mohammad Ehsan Jaripour Kourosh Hayatigolkhatmi Vahid Iranmanesh Farhad Khadivi Zand Zahra Badiei Hamid Farhangi Ali Ghasemi Abdollah Banihashem Reza Jafarzadeh Esfehani Ariane Sadr-Nabavi PREVALENCE OF ß-THALASSEMIA MUTATIONS AMONG NORTHEASTERN IRANIAN POPULATION AND THEIR IMPACTS ON HEMATOLOGICAL INDICES AND APPLICATION OF PRENATAL DIAGNOSIS, A SEVEN-YEARS STUDY Mediterranean Journal of Hematology and Infectious Diseases ß-thalassemia, mutation prevalence, complete blood count, prenatal diagnosis, Khorasan |
| title | PREVALENCE OF ß-THALASSEMIA MUTATIONS AMONG NORTHEASTERN IRANIAN POPULATION AND THEIR IMPACTS ON HEMATOLOGICAL INDICES AND APPLICATION OF PRENATAL DIAGNOSIS, A SEVEN-YEARS STUDY |
| title_full | PREVALENCE OF ß-THALASSEMIA MUTATIONS AMONG NORTHEASTERN IRANIAN POPULATION AND THEIR IMPACTS ON HEMATOLOGICAL INDICES AND APPLICATION OF PRENATAL DIAGNOSIS, A SEVEN-YEARS STUDY |
| title_fullStr | PREVALENCE OF ß-THALASSEMIA MUTATIONS AMONG NORTHEASTERN IRANIAN POPULATION AND THEIR IMPACTS ON HEMATOLOGICAL INDICES AND APPLICATION OF PRENATAL DIAGNOSIS, A SEVEN-YEARS STUDY |
| title_full_unstemmed | PREVALENCE OF ß-THALASSEMIA MUTATIONS AMONG NORTHEASTERN IRANIAN POPULATION AND THEIR IMPACTS ON HEMATOLOGICAL INDICES AND APPLICATION OF PRENATAL DIAGNOSIS, A SEVEN-YEARS STUDY |
| title_short | PREVALENCE OF ß-THALASSEMIA MUTATIONS AMONG NORTHEASTERN IRANIAN POPULATION AND THEIR IMPACTS ON HEMATOLOGICAL INDICES AND APPLICATION OF PRENATAL DIAGNOSIS, A SEVEN-YEARS STUDY |
| title_sort | prevalence of ss thalassemia mutations among northeastern iranian population and their impacts on hematological indices and application of prenatal diagnosis a seven years study |
| topic | ß-thalassemia, mutation prevalence, complete blood count, prenatal diagnosis, Khorasan |
| url | https://www.mjhid.org/index.php/mjhid/article/view/3392 |
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