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
ABSTRACT
A study of epidemic transmission of Chikungunya virus (CHIK) was initiated in April 1999 in Yogyakarta, Indonesia. Three hundred seventeen volunteers from three kelurahans (sub-districts) were recruited. Anti-CHIK IgG antibodies were detected in 68% to 74% of cases and 28% to 32% of controls. In the kelurahan with no reported CHIK illness, 29% of cases and 28% of controls had anti-CHIK IgG antibodies. None of these cases demonstrated anti-CHIK IgM antibodies. In the two kelurahans with disease activity, anti-CHIK IgM antibodies were detected in 3% to 36% of cases, with the highest percentage from the kelurahan with recently reported cases. Ten percent of controls from Gowok had anti-CHIK IgM detected in their serum. Twelve acutely ill volunteers were later included from the kelurahan Pilahan for virus identification. Samples from two volunteers were culture- and RT-PCR-positive for CHIK. This is the first documentation of epidemic transmission of CHIK in Indonesia since 1982.