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Glutathione S transferase and catalase gene polymorphisms did not tend to influence the severity of hemoglobin E/β-thalassemia

Universa Medicina · Vol. 39 No. 1 (2020) · hlm. 19–26

DOI
10.18051/UnivMed.2020.v39.19-26
ISSN
2407-2230, 1907-3062
Terbit
2020-02-04
Penerbit
Faculty of Medicine, Universitas Trisakti
Bahasa
eng

Abstrak

BackgroundThalassemia, a monogenic genetic disease of red blood cells, is spread widely throughout the world. Glutathione S transferase (GST) enzymes have an antioxidant role in detoxification processes of toxic substances This study aimed to determine the role of the genetic modifier genes GSTT1 and GSTM1, and the catalase (CAT) gene in clinical degrees of hemoglobin (Hb)E/β thalassemia. MethodsSixty HbE/β Thalassemia patients were examined to determine their clinical pictures. Clinical score was based on age when thalassemia symptoms appeared, time of diagnosis, time of first blood transfusion, pre-transfusion hemoglobin concentration, frequency of transfusions, and enlargement of spleen. Ferritin concentration was also obtained from medical records. Gene polymorphisms of GSTT1, GSTM1, and CAT were measured using PCR and PCR-RFLP methods. Clinical scores were categorized into mild (0-3.5), moderate (4-7), and severe (7.5-10) degrees, while ferritin level was expressed in mg/dL. One way Anova was used to analyze the data. ResultsThe clinical appearance showed that severe, moderate, and mild degrees accounted for 42%, 45%, and 13%, respectively. The majority had a high ferritin level of more than 5000 mg/dL (67%). GSTT1 null, GSTM1 null, and CAT minor allele genotypes were 21.7%, 33.3%, and 12.1%, respectively. GSTT1, GSTM1, and CAT genotypes had no impact on the severity of thalassemia patients (p=0.091, p=0.082, and p=0.141, respectively).ConclusionGSTT1, GSTM1, CAT gene polymorphisms tend to be a minor aspect of severity of clinical outcome for HbE/â thalassemia patients and should be not considered a routine laboratory check.

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  • Jenderal Soedirman University
  • Diponegoro University
  • Erasmus MC
  • IMU University
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Rekan penulisOrganisasiArtikel bersama
Joko MulyantoJenderal Soedirman University2
M.Dodik PrastiyoAfiliasi tidak diketahui1
Hernawati HernawatiJenderal Soedirman University1
Teguh Haryo SasongkoIMU University1
Dwi Utami AnjarwatiJenderal Soedirman University1
Gembong Satria MahardhikaJenderal Soedirman University1
Metta Ayu SusantiJenderal Soedirman University1
Indah PuspariniJenderal Soedirman University1
Dyah Woro Dwi LestariJenderal Soedirman University1
Muhammad Nur HaniefJenderal Soedirman University1
Paulus GozaliJenderal Soedirman University1
Arini Dewi SetyowatiJenderal Soedirman University1
Saien SaienJenderal Soedirman University1
Lies Anne SeverijnenAfiliasi tidak diketahui1
Sultana MH FaradzDiponegoro University1
Rob WillemsenErasmus MC1
Dwi KustianiDiponegoro University1
Peter HanzonErasmus MC1

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Sumber metadata: OAI-PMH (metadata jurnal) https://univmed.org/ejurnal/index.php/medicina/oai, pertama di-harvest 10 Nov 2026, terakhir terlihat 10 Nov 2026.
Metadata asli (oai_dc)
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	<dc:title xml:lang="en">Glutathione S transferase and catalase gene polymorphisms did not tend to influence the severity of hemoglobin E/β-thalassemia</dc:title>
	<dc:creator xml:lang="en">Rujito, Lantip</dc:creator>
	<dc:creator xml:lang="en">Widodo, Yundandhika Rizki</dc:creator>
	<dc:creator xml:lang="en">Sakina, Ghaida</dc:creator>
	<dc:creator xml:lang="en">Santosa, Qodri</dc:creator>
	<dc:creator xml:lang="en">Hapsari, Ariadne Tiara</dc:creator>
	<dc:subject xml:lang="en">GSTT1</dc:subject>
	<dc:subject xml:lang="en">GSTM1</dc:subject>
	<dc:subject xml:lang="en">CAT</dc:subject>
	<dc:subject xml:lang="en">HbE/β thalassemia</dc:subject>
	<dc:subject xml:lang="en">clinical score</dc:subject>
	<dc:description xml:lang="en">BackgroundThalassemia, a monogenic genetic disease of red blood cells, is spread widely throughout the world. Glutathione S transferase (GST) enzymes have an antioxidant role in detoxification processes of toxic substances This study aimed to determine the role of the genetic modifier genes GSTT1 and GSTM1, and the catalase (CAT) gene in clinical degrees of hemoglobin (Hb)E/β thalassemia. MethodsSixty HbE/β Thalassemia patients were examined to determine their clinical pictures. Clinical score was based on age when thalassemia symptoms appeared, time of diagnosis, time of first blood transfusion, pre-transfusion hemoglobin concentration, frequency of transfusions, and enlargement of spleen. Ferritin concentration was also obtained from medical records. Gene polymorphisms of GSTT1, GSTM1, and CAT were measured using PCR and PCR-RFLP methods. Clinical scores were categorized into mild (0-3.5), moderate (4-7), and severe (7.5-10) degrees, while ferritin level was expressed in mg/dL. One way Anova was used to analyze the data. ResultsThe clinical appearance showed that severe, moderate, and mild degrees accounted for 42%, 45%, and 13%, respectively. The majority had a high ferritin level of more than 5000 mg/dL (67%). GSTT1 null, GSTM1 null, and CAT minor allele genotypes were 21.7%, 33.3%, and 12.1%, respectively. GSTT1, GSTM1, and CAT genotypes had no impact on the severity of thalassemia patients (p=0.091, p=0.082, and p=0.141, respectively).ConclusionGSTT1, GSTM1, CAT gene polymorphisms tend to be a minor aspect of severity of clinical outcome for HbE/â thalassemia patients and should be not considered a routine laboratory check.</dc:description>
	<dc:publisher xml:lang="en">Faculty of Medicine, Universitas Trisakti</dc:publisher>
	<dc:date>2020-02-04</dc:date>
	<dc:type>info:eu-repo/semantics/article</dc:type>
	<dc:type>info:eu-repo/semantics/publishedVersion</dc:type>
	<dc:format>application/pdf</dc:format>
	<dc:identifier>https://univmed.org/ejurnal/index.php/medicina/article/view/670</dc:identifier>
	<dc:identifier>10.18051/UnivMed.2020.v39.19-26</dc:identifier>
	<dc:source xml:lang="en">Universa Medicina; Vol. 39 No. 1 (2020); 19-26</dc:source>
	<dc:source>2407-2230</dc:source>
	<dc:source>1907-3062</dc:source>
	<dc:source>10.18051/UnivMed.2020.v39.i1</dc:source>
	<dc:language>eng</dc:language>
	<dc:relation>https://univmed.org/ejurnal/index.php/medicina/article/view/670/576</dc:relation>
	<dc:rights xml:lang="en">Copyright (c) 2020 Lantip Rujito, Yundandhika Rizki Widodo, Ghaida Sakina, Qodri Santosa, Ariadne Tiara Hapsari</dc:rights>
</oai_dc:dc>