Pirastru Monica, Mereu Paolo, Nguyen Chau Quynh, Nguyen Nhan Viet, Nguyen Thang Duy, Manca Laura
Dipartimento di Scienze Biomediche, Università di Sassari, Sassari, Italy.
Hematology Department, Hue University, Hue, Vietnam.
Biomed Res Int. 2017;2017:4537409. doi: 10.1155/2017/4537409. Epub 2017 Apr 19.
We report a novel -thalassemia mutation found in a Vietnamese family. The molecular defect T→A lies at -72 of the -globin gene promoter, within the conserved CCAAT box. The index case was a 5-year-old child having red blood cells indices close to normal and slightly increased level of HbA (3.96%). The expression of the mutated allele was inferred by luciferase reporter assay in K562 cells. The -72 determinant is the eighth -thalassemic mutation identified in Vietnam and it was not previously reported in any population. The absence of homozygous or compound heterozygous states did not allow us to precisely predict either its clinical impact or its relevance in management programs. Our results further underline the importance of identifying and characterizing new or rare -thalassemic alleles in carrier screening and prenatal diagnosis.
我们报告了在一个越南家庭中发现的一种新型β地中海贫血突变。分子缺陷T→A位于β珠蛋白基因启动子的-72位，在保守的CCAAT框内。索引病例是一名5岁儿童，其红细胞指数接近正常，HbA水平略有升高（3.96%）。通过在K562细胞中进行荧光素酶报告基因检测推断出突变β等位基因的表达。-72决定簇是在越南鉴定出的第八种β地中海贫血突变，此前在任何人群中均未报道。由于不存在纯合或复合杂合状态，我们无法精确预测其临床影响或在管理计划中的相关性。我们的结果进一步强调了在携带者筛查和产前诊断中鉴定和表征新的或罕见的β地中海贫血等位基因的重要性。
