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Hematology, Oncology and Stem Cell Therapy. 2016; 9 (2): 55-63
in English | IMEMR | ID: emr-182866

ABSTRACT

Objective/background: Thalassemia is a monogenic hematologic disease that has the highest prevalence globally. In addition, there is complexity of the genetic background associated with a variety of phenotypes presented among patients. Genetic heterogeneity related to fetal hemoglobin [HbF] production has been reported as an influencing phenotypic factor of beta-thalassemia [beta-thal]. Therefore, this study aimed to find the effect of these genetic modifiers, especially in the XmnI locus, rs11886868, rs766432 [BCL11A], and rs9399137 [HBS1L-MYB], among beta-thal and HbE/beta-thal patients in Indonesia, according to laboratory and clinical outcomes, including HbF levels and clinical scores. This study was also designed to compare these modifying effects among beta-thal and HbE/beta-thal patients in Indonesia


Methods: A total of 189 patients with genotyping of beta-thal and HbE/beta-thal were included in this study. The erythrocytes index and Hb electrophoresis measurements were calculated using appropriate methods. The severity of beta-thal and HbE/beta-thal was classified based on the Mahidol score. Polymorphism of the XmnI locus, rs11886868, rs766432 [BCL11A], and rs9399137 [HBS1L-MYB] was determined using polymerase chain reaction-restriction fragment length polymorphism [PCR-RFLP] and amplification refractory mutation system [ARMS] methods


Results: The distributions of minor allele in the XmnI locus, rs11886868, rs766432, and rs9399137 were 14%, 22%, 19% and 18% respectively. The variation allele in the XmnI locus, rs11886868, and rs766432 showed a significant value for modifying HbF and clinical score in HbE/beta-thal patients, but rs9399137 did not demonstrate such features. In beta-thal patients, however, no correlation was found for any single-nucleotide polymorphisms and clinical appearance


Conclusion: The XmnI locus, rs11886868, and rs766432 have a modifying effect on HbF and clinical score in HbE/beta-thal patients in Indonesia, but not in beta-thal patients

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