Thalassemia Major and Intermedia Patients in East Java do not Show Fetal Hemoglobin Level Difference in Relation to XMNI Polymorphism

INTRODUCTION: Thalassemia is a genetic disorder, which shows, varies phenotype due to genetic modifier. XmnI is one of the genetic modifiers which affect clinical severity in thalassemia. XmnI polymorphism may increase HbF production beyond fetal life, thus ameliorating the clinical phenotype. AIM: this study aimed to investigate the difference in HbF level and the relation of HbF level and XmnI polymorphism in Thalassemia Major (TM) and Thalassemia Intermedia (TI) patients. METHODS: forty-eight beta thalassemia patients (28 males and 20 females), consists of 16 TM and 32 TI; mean age, 25.30 year old. Hemoglobin Fetal and HbA(2) level were determined using High performance Liquid Chromatography (HPLC), and XmnI polymorphism was confirmed by PCR-RFLP. Statistical analysis was done using T-test, Mann-Whitney and Pearson Chi-square. RESULTS: The frequency of heterozygote (+/-) XmnI polymorphism in TM and TI patients was 56.25% vs 71.87%, while the frequency of homozygote (-/-) in TM and TI was 43.75% vs 28.13% with p value >0.05. The insignificant difference also found in HbF level between XmnI +/- and -/- in TM and TI patients. CONCLUSION: This study revealed that thalassemia major and thalassemia intermedia patients in East Java showed similar XmnI polymorphism. These phenomena also showed by HbF level in relation to XmnI polymorphism in the phenotype groups (TM and TI).