Modifying effect of XmnI, BCL11A, and HBS1L-MYB on clinical appearances: a study on beta-thalassemia and hemoglobin E/beta-thalassemia patients in Indonesia
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
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Index:
IMEMR (Eastern Mediterranean)
Language:
English
Journal:
Hematol. Oncol. Stem Cell Ther.
Year:
2016
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