Sripichai Orapan, Whitacre Johanna, Munkongdee Thongperm, Kumkhaek Chutima, Makarasara Wattanan, Winichagoon Pranee, Abel Ken, Braun Andreas, Fucharoen Suthat
Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Salaya, Phuttamonthon 4 Rd. Phuttamonthon, Nakornpathom 73170, Thailand.
Ann N Y Acad Sci. 2005;1054:433-8. doi: 10.1196/annals.1345.066.
Hemoglobin E (Hb E)-beta-thalassemia patients display a range of clinical severities, from nearly asymptomatic to transfusion-dependent thalassemia major. Given this clinical heterogeneity, additional genetic factors modifying disease severity remain to be discovered. Association studies are being conducted to elucidate the role of genetic polymorphisms as disease severity modifiers in Hb E-beta-thalassemia patients. Using strict scoring criteria, 1060 Hb E-beta-thalassemia patients were categorized into mild, moderate, and severe groups. Taking a candidate gene approach, we found no statistically significant differences between the mild and severe patients groups in allelic or genotypic frequencies for single nucleotide polymorphisms within five genes known to influence globin gene expression and erythropoiesis.
血红蛋白E（Hb E）-β地中海贫血患者表现出一系列临床严重程度，从几乎无症状到依赖输血的重型地中海贫血。鉴于这种临床异质性，仍有待发现影响疾病严重程度的其他遗传因素。目前正在进行关联研究，以阐明基因多态性作为Hb E-β地中海贫血患者疾病严重程度修饰因子的作用。采用严格的评分标准，将1060例Hb E-β地中海贫血患者分为轻度、中度和重度组。采用候选基因方法，我们发现已知影响珠蛋白基因表达和红细胞生成的五个基因中的单核苷酸多态性，在轻度和重度患者组之间的等位基因或基因型频率上没有统计学显著差异。
