Farra Chantal, Daher Rose, Badra Rebecca, el Rafei Rym, Bejjany Rachelle, Charafeddine Lama, Yunis Khalid
Department of Pathology & Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon ; Department of Pediatrics & Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Department of Pathology & Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Biomed Res Int. 2015;2015:517679. doi: 10.1155/2015/517679. Epub 2015 Mar 5.
It is well established that the Mediterranean and Arab populations are at high risk for thalassemias in general and for alpha-thalassemia in particular. Yet, reports on alpha-thalassemia in Lebanon are still lacking. In this study, we aim at assessing the incidence of alpha-thalassemia in the Lebanese population.
230 newborns' dried blood cards remaining from routine neonatal screening at the American University of Beirut Medical Center were collected for DNA extraction. Samples were screened for the 21 most common α-globin deletions and point mutations reported worldwide, through multiplex Polymerase Chain Reaction (PCR) and Reverse-Hybridization technique.
Upon analyses, the carrier rate of α-thalassemia was found to be 8%. Two mutations detected the -α(3,7) single gene deletion found in 75% of cases and the nongene deletion α2 IVS1 [-5nt] in the remaining samples.
This study is the first dedicated to investigate α-thalassemia trait incidence in Lebanon. Data obtained demonstrates a high carrier rate in a relatively, highly consanguineous population; it also highlighted the presence of two common mutations. These results may be of an important impact on premarital and newborn screening policies in our country.
众所周知，地中海和阿拉伯人群总体上患地中海贫血的风险很高，尤其是患α地中海贫血的风险。然而，黎巴嫩关于α地中海贫血的报道仍然缺乏。在本研究中，我们旨在评估黎巴嫩人群中α地中海贫血的发病率。
收集了贝鲁特美国大学医疗中心常规新生儿筛查剩余的230份新生儿干血片用于DNA提取。通过多重聚合酶链反应（PCR）和反向杂交技术，对样本进行全球范围内报道的21种最常见的α珠蛋白缺失和点突变的筛查。
经分析，发现α地中海贫血的携带率为8%。检测到两种突变，75%的病例中发现-α(3,7)单基因缺失，其余样本中发现非基因缺失α2 IVS1 [-5nt]。
本研究是首次专门调查黎巴嫩α地中海贫血特征发病率的研究。获得的数据表明，在一个相对高度近亲结婚的人群中携带率很高；它还突出了两种常见突变的存在。这些结果可能对我国的婚前和新生儿筛查政策产生重要影响。
