Chen Li-Zhu, Yan Ti-Zhen, Huang Jun, Zhong Qing-Yan, Qin Xue, Tang Ning, Luo Shi-Qiang
Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou Key Laboratory of Birth Defects Prevention and Control, Liuzhou 545001, Guangxi Zhuang Autonomous Region, China.
Department of Inspection Division, The First Affiliated Hospital of Guangxi Medical University, Nanning 530000, Guangxi Zhuang Autonomous Region, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2024 Jun;32(3):940-944. doi: 10.19746/j.cnki.issn.1009-2137.2024.03.044.
To perform molecular diagnosis and pedigree analysis for one case with α-thalassemia who does not conform to the genetic laws, and explore the effects of a newly discovered rare mutation () on clinical phenotypes.
Blood samples of the proband and her family members were collected for blood routine analysis, and the hemoglobin components were analyzed by capillary electrophoresis. The common α- and β-globin gene loci in Chinese population were detected by conventional techniques (Gap-PCR, RDB-PCR). The α-globin gene sequences () were analyzed by Sanger sequencing.
By analyzing the test results of proband and her family members, the genotype of the proband was -α/, her father was heterozygous mutation carrier.
This study identifies a rare α-globin gene mutation () that has not been reported before. It is found that heterozygous mutation carriers present with static α-thalassemia.
对1例不符合遗传规律的α地中海贫血患者进行分子诊断和家系分析，探讨新发现的罕见突变（）对临床表型的影响。
采集先证者及其家庭成员的血液样本进行血常规分析，采用毛细管电泳法分析血红蛋白成分。采用常规技术（缺口聚合酶链反应、反向点杂交聚合酶链反应）检测中国人群常见的α和β珠蛋白基因位点。采用桑格测序法分析α珠蛋白基因序列（）。
通过分析先证者及其家庭成员的检测结果，先证者的基因型为-α/，其父亲为杂合突变携带者。
本研究鉴定出一种此前未报道过的罕见α珠蛋白基因突变（）。发现杂合突变携带者表现为静止型α地中海贫血。
