Objective: 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 (HBA2:c.*12G>A) on clinical phenotypes.
Methods: 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 (HBA1, HBA2) were analyzed by Sanger sequencing.
Results: By analyzing the test results of proband and her family members, the genotype of the proband was -α3.7/HBA2:c.*12G>A, her father was HBA2:c.*12G>A heterozygous mutation carrier.
Conclusion: This study identifies a rare α-globin gene mutation (HBA2:c.*12G>A) that has not been reported before. It is found that heterozygous mutation carriers present with static α-thalassemia.
题目: HBA2基因非编码区罕见突变分子诊断及家系分析.
目的: 对1例不符合遗传规律的α-地中海贫血病例进行分子诊断及家系分析，探索新发现的罕见突变（HBA2:c.*12G>A）对临床表型的影响。.
方法: 采集先证者及其家系成员的血液样本进行血常规检测，毛细管电泳法进行血红蛋白组分分析，常规技术（Gap-PCR、RDB-PCR）检测中国人群常见的α-及β-珠蛋白基因位点，Sanger测序法分析α-珠蛋白基因序列（HBA1, HBA2）。.
结果: 通过分析先证者及其家系成员的检测结果，检出先证者基因型为-α3.7/HBA2:c.*12G>A，其父亲为罕见α-珠蛋白基因HBA2:c.*12G>A杂合突变携带者。.
结论: 本研究发现了一种未报道的罕见α-珠蛋白基因突变HBA2:c.*12G>A，其杂合突变携带者表现为静止型α-地中海贫血。.
Keywords:
α-thalassemia; gene mutation;