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. is one of the genetic modifiers which affect clinical severity in thalassemia. I 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 I 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 level were determined using High performance Liquid Chromatography (HPLC), and I polymorphism was confirmed by PCR-RFLP. Statistical analysis was done using T-test, Mann-Whitney and Pearson Chi-square.

Results: The frequency of heterozygote (+/-) I 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 I +/- and -/- in TM and TI patients.

Conclusion: This study revealed that thalassemia major and thalassemia intermedia patients in East Java showed similar I polymorphism. These phenomena also showed by HbF level in relation to I polymorphism in the phenotype groups (TM and TI).