Molecular Study in Identifying Genotypes to Phenotypes Relations of Transfusion-Dependent Thalassemia Patients in Cirebon, West Java
Molecular characterization is important prior to clinical management as it can provide additional information for the clinical management of patients. This study aims to characterize the most common mutation and identify genotype-to-phenotype relations in transfusion-dependent thalassemia patien...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Universitas Indonesia
2022-12-01
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| Series: | International Journal of Technology |
| Subjects: | |
| Online Access: | https://ijtech.eng.ui.ac.id/article/view/6136 |
| _version_ | 1797974804213530624 |
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| author | Donny Nauphar Pustika Amalia Wahidiyat Yulia Ariani |
| author_facet | Donny Nauphar Pustika Amalia Wahidiyat Yulia Ariani |
| author_sort | Donny Nauphar |
| collection | DOAJ |
| description | Molecular characterization is
important prior to clinical management as it can provide additional information
for the clinical management of patients. This study aims to characterize the
most common mutation and identify genotype-to-phenotype relations in transfusion-dependent
thalassemia patients. A total of 30 transfusion-dependent patients were
recruited who had never undergone thalassemia detection. Peripheral blood
samples were collected and analyzed for hematological parameters, hemoglobin
component, and HBA and HBB gene mutation analysis. The most
common mutation in the HBB gene was IVS1-5 (41.7%) and CD26/HbE (23.3%),
with homozygous IVS1-5 (23.3%) and IVS1-5/HbE (30%) as the most common
genotype. The study revealed a genotype and phenotype correlation of the most
common thalassemia mutations in Cirebon, West Java, Indonesia, with four
alleles dominating the genotype, covering 88.4% of the population. A
significant difference in HbA2+HbE and HbF levels was observed between
homozygous ?-thalassemia and
?-thalassemia/HbE. Homozygous ?-thalassemia with ?-thalassemia trait has better
hematological parameters compared to homozygous ?-thalassemia and ?-thalassemia/HbE but does not translate to a better
severity index. Characterizing the most common thalassemia mutations in
the Indonesian population can streamline the subsequent diagnostic approaches
by focusing on the small range of predominant alleles instead of a wide range
of alleles, which can provide critical data for better patient management. |
| first_indexed | 2024-04-11T04:24:27Z |
| format | Article |
| id | doaj.art-f7993dda146d4c46ae666beafd20db2b |
| institution | Directory Open Access Journal |
| issn | 2086-9614 2087-2100 |
| language | English |
| last_indexed | 2024-04-11T04:24:27Z |
| publishDate | 2022-12-01 |
| publisher | Universitas Indonesia |
| record_format | Article |
| series | International Journal of Technology |
| spelling | doaj.art-f7993dda146d4c46ae666beafd20db2b2022-12-30T02:23:43ZengUniversitas IndonesiaInternational Journal of Technology2086-96142087-21002022-12-011381726173410.14716/ijtech.v13i8.61366136Molecular Study in Identifying Genotypes to Phenotypes Relations of Transfusion-Dependent Thalassemia Patients in Cirebon, West JavaDonny Nauphar0Pustika Amalia Wahidiyat1Yulia Ariani21. Doctoral Program in Biomedical Sciences, Faculty of Medicine, Universitas Indonesia, Kampus UI Salemba, 10430, Indonesia, 2. Department of Genetics, Faculty of Medicine Universitas Swadaya Gunung JDepartment of Pediatrics, Faculty of Medicine, Universitas Indonesia, Kampus UI Salemba, 10430, IndonesiaDepartment of Pediatrics, Faculty of Medicine, Universitas Indonesia, Kampus UI Salemba, 10430, IndonesiaMolecular characterization is important prior to clinical management as it can provide additional information for the clinical management of patients. This study aims to characterize the most common mutation and identify genotype-to-phenotype relations in transfusion-dependent thalassemia patients. A total of 30 transfusion-dependent patients were recruited who had never undergone thalassemia detection. Peripheral blood samples were collected and analyzed for hematological parameters, hemoglobin component, and HBA and HBB gene mutation analysis. The most common mutation in the HBB gene was IVS1-5 (41.7%) and CD26/HbE (23.3%), with homozygous IVS1-5 (23.3%) and IVS1-5/HbE (30%) as the most common genotype. The study revealed a genotype and phenotype correlation of the most common thalassemia mutations in Cirebon, West Java, Indonesia, with four alleles dominating the genotype, covering 88.4% of the population. A significant difference in HbA2+HbE and HbF levels was observed between homozygous ?-thalassemia and ?-thalassemia/HbE. Homozygous ?-thalassemia with ?-thalassemia trait has better hematological parameters compared to homozygous ?-thalassemia and ?-thalassemia/HbE but does not translate to a better severity index. Characterizing the most common thalassemia mutations in the Indonesian population can streamline the subsequent diagnostic approaches by focusing on the small range of predominant alleles instead of a wide range of alleles, which can provide critical data for better patient management.https://ijtech.eng.ui.ac.id/article/view/6136genotype-phenotypehbahbbmahidol severity indexthalassemia |
| spellingShingle | Donny Nauphar Pustika Amalia Wahidiyat Yulia Ariani Molecular Study in Identifying Genotypes to Phenotypes Relations of Transfusion-Dependent Thalassemia Patients in Cirebon, West Java International Journal of Technology genotype-phenotype hba hbb mahidol severity index thalassemia |
| title | Molecular Study in Identifying Genotypes to Phenotypes Relations of Transfusion-Dependent Thalassemia Patients in Cirebon, West Java |
| title_full | Molecular Study in Identifying Genotypes to Phenotypes Relations of Transfusion-Dependent Thalassemia Patients in Cirebon, West Java |
| title_fullStr | Molecular Study in Identifying Genotypes to Phenotypes Relations of Transfusion-Dependent Thalassemia Patients in Cirebon, West Java |
| title_full_unstemmed | Molecular Study in Identifying Genotypes to Phenotypes Relations of Transfusion-Dependent Thalassemia Patients in Cirebon, West Java |
| title_short | Molecular Study in Identifying Genotypes to Phenotypes Relations of Transfusion-Dependent Thalassemia Patients in Cirebon, West Java |
| title_sort | molecular study in identifying genotypes to phenotypes relations of transfusion dependent thalassemia patients in cirebon west java |
| topic | genotype-phenotype hba hbb mahidol severity index thalassemia |
| url | https://ijtech.eng.ui.ac.id/article/view/6136 |
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