Prenatal diagnosis center, Quanzhou Women's and Children's Hospital, Quanzhou city, Fujian Province, China.
Research and Development Department, Yaneng BIOscience (Shenzhen) Co. Ltd, Shenzhen, China.
J Clin Pathol. 2020 Sep;73(9):593-596. doi: 10.1136/jclinpath-2020-206426. Epub 2020 Feb 27.
β-Thalassaemia is an inherited blood disorder caused by mutations in the β-globin gene cluster. Molecular characterisation of β-thalassaemia is essential for its diagnosis and management. More and more rare and novel mutations have been reported.
Two Chinese families with β-thalassaemia from Fujian Province were recruited in this study. The phenotypes of the probands were confirmed through haematological analysis. Routine molecular analysis of thalassaemia was employed to identify the common mutations of thalassaemia. The rare and novel mutations were detected by direct DNA sequencing.
In family 1, the proband, a Chinese woman aged 31 years, showed elevated level of haemoglobin A2 (HbA2). No common mutations associated with β-thalassaemia were detected, whereas a rare mutation Term CD+32(HBB: c.32A>C) was identified through DNA sequencing. Subsequent investigation of the β-thalassaemia mutation in her family showed that her mother, her brother as well as her nephew also carried this mutation. In addition, both the proband's husband and her son carrying the rare -- mutation exhibited decreased levels of MCH, MCH and HbA2. In family 2, the proband, a child aged 1 year, showed elevated level of HbA2, but had no common mutations of β-thalassaemia. The proband was identified carrying the mutation Term CD+32(HBB: c.32A>C), which was inherited from his mother.
In this study, we first report a rare β-thalassaemia mutation in Fujian Province, Southeast China. Moreover, our study also identified this rare mutation in humans. This finding has helped broaden the spectrum of β-thalassaemia mutations in our region and suggested that this rare mutation may be more prevalent in the Chinese population.
β-地中海贫血是一种由β-珠蛋白基因簇突变引起的遗传性血液病。β-地中海贫血的分子特征对于其诊断和管理至关重要。越来越多的罕见和新突变被报道。
本研究招募了来自福建省的两个β-地中海贫血的中国家庭。通过血液学分析确定先证者的表型。采用常规地中海贫血分子分析鉴定常见的地中海贫血突变。通过直接 DNA 测序检测罕见和新的突变。
在家庭 1 中，先证者是一位 31 岁的中国女性，表现为血红蛋白 A2（HbA2）水平升高。未检测到与β-地中海贫血相关的常见突变，而通过 DNA 测序鉴定出罕见突变 Term CD+32（HBB：c.32A>C）。随后对该家庭的β-地中海贫血突变进行调查，发现其母亲、哥哥和侄子也携带该突变。此外，先证者的丈夫和携带罕见突变的儿子均表现为 MCV、MCH 和 HbA2 水平降低。在家庭 2 中，先证者是一名 1 岁的儿童，表现为 HbA2 水平升高，但没有β-地中海贫血的常见突变。先证者携带突变 Term CD+32（HBB：c.32A>C），该突变从其母亲遗传而来。
本研究首次报道了中国东南部福建省的一个罕见β-地中海贫血突变。此外，我们的研究还在人类中鉴定出了这个罕见的突变。这一发现有助于拓宽我们地区β-地中海贫血突变的谱，并表明该罕见突变可能在中国人中更为普遍。
