Polymorphism of KLF1 genes in β-Thalassemia and Effects Levels of HBF Levels, HB Levels and Blood Transfusion Frequencies

Polymorphism of KLF1 genes in β-Thalassemia and Effects Levels of HBF Levels, HB Levels and Blood Transfusion Frequencies Mutia Syafira,1 Yunia Sribudiani,2 Ani Melanie Maskoen3 1 Program Studi Magister Bioteknologi, Sekolah Pascasarjana, Universitas Padjajaran Bandung, Indonesia 2 Departemen Ilmu Kedokteran Dasar , Fakultas Kedokteran, Universitas Padjajaran Bandung, Indonesia 3 Departemen Kedokteran Gigi, Fakultas Kedokteran, Universitas Padjajaran Bandung, Indonesia ABSTRACT β-Thalassemia is an autosomal recessive inherited red blood cell disorder, a problem that often occurs in cases throughout the world, especially in the `Thalassemia belt` area. β-Thalassemia is caused by a defect in the β-globin gene due to reduced or absent synthesis of the β-globin chain. This leads to mild or severe symptoms with certain classifications such as dependence on blood transfusions and iron chelating drugs and physical characteristics that cause complications in several other organs. Genetic modifiers is an opportunity in the future for the transition of therapy more specifically to people with thalassemia, initiation of progress and clinical trials that are widely triggered there are several candidate genes, one of which is polymorphisms in the KLF1 gene. The polymorphisms at the KLF1 were identified the nucleotide positions of c.325C>T and c.304C>T, this may be associated with an increase in HbF levels which in turn can decrease the severity of symptoms in β-Thalassemia. This study is aimed to identify KLF1 polymorphisms and study their effect on HbF levels and disesease severity in β-Thalassemia patients in Bandung, West Java. Disease severity in this study are presented as level of Haemoglobin (Hb) and frequency of blood transfusion. Fourty two DNA samples of patients with β-thalassemia major and intermedia stored in Pusat Studi Genetik Medis, Faculty of Medicine, Universitas Padjadjaran were used in this study. All exons of KLF1 were amplied and mutation analysis was performed by using Sanger Sequencing. The polymorphisms that were identified were rs117351327 and rs2072597 in nine subjects with MAF values of 0.047 and 0.0059 respectively. In this study we showed that there was no significant difference in HbF levels between b-thalassemia patients with and without KLF1 polymorphisms. And there is no association of KLF1 polymorphism with HbF levels, Hb levels and frequency of blood transfusions in patients with -thalassemia with and without KLF1 polymorphisms. Found Polymorphism KLF1 RS2072597 and RS117351327 with changes in nucleotides C.325C> T and C.304C> T or (P.Pro109SER and P.Ser102Pro) with a MAF value of 0.047 at RS117351327 and 0.059 in RS2072597. There is no significant difference in HBF levels between people with β-thalassemia and and without KLF1 polymorphism. In the association value there is no significant difference in KLF1 polymorphism with HBF levels in people with β-thalassemia. And at the difference in the HB level and the frequency of blood transfusion in people with β-thalassemia with and without polymorphism KLF1 there is no significant difference. Key Words : β-Thalassemia, KLF1 polymorphism, HbF level

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Key Words : β-Thalassemia, KLF1 polymorphism, HbF level

Thu Nov 03 2022 18:44:15 GMT+0000 (Coordinated Universal Time)

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