Waye John S, Hanna Meredith, Hohenadel Betty-Ann, Nakamura Lisa, Walker Lynda, Eng Barry
a Hamilton Regional Laboratory Medicine Program , Hamilton Health Sciences , Hamilton , ON , Canada.
b Department of Pathology and Molecular Medicine , McMaster University , Hamilton , ON , Canada.
Hemoglobin. 2017 Jul-Nov;41(4-6):239-242. doi: 10.1080/03630269.2017.1397015. Epub 2017 Nov 28.
We report two novel β-thalassemia (β-thal) deletions involving the 5' region of the β-globin gene (HBB). The first deletion spans 538 bp and removes the β-globin promoter, 5' untranslated region (5'UTR) and most of exon 1. This deletion was identified in a 3-year-old Vietnamese boy with non transfusion dependent Hb E (HBB: c.79G>A)/β-thal. The second deletion spans 1517 bp and removes the β-globin gene promoter, 5'UTR, and exons 1 and 2. This deletion was identified in two unrelated adults of European descent who had β-thal trait with unusually high Hb A levels. Deletions such as these are generally associated with higher levels of Hb A and Hb F than typical β-thal alleles, which may ameliorate the severity of the disease.
我们报告了两种涉及β-珠蛋白基因（HBB）5'区域的新型β-地中海贫血（β-地贫）缺失。第一种缺失跨度为538 bp，去除了β-珠蛋白启动子、5'非翻译区（5'UTR）和大部分外显子1。这种缺失在一名3岁的越南男孩中被发现，他患有非输血依赖型Hb E（HBB：c.79G>A）/β-地贫。第二种缺失跨度为1517 bp，去除了β-珠蛋白基因启动子、5'UTR以及外显子1和2。这种缺失在两名具有β-地贫特征且Hb A水平异常高的欧洲血统无关成年人中被发现。与典型的β-地贫等位基因相比，此类缺失通常与更高水平的Hb A和Hb F相关，这可能会减轻疾病的严重程度。
