The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China.
Hematology. 2023 Dec;28(1):2265723. doi: 10.1080/16078454.2023.2265723. Epub 2023 Oct 10.
-thalassemia is a common inherited hemolytic disorder caused by mutations in the HBB gene. Genetic analysis of 2 new beta-thalassemia patients with deletion mutations in the HBB gene and their family members.
Their clinical presentation and blood phenotypic tests were analyzed. We detected the approximate degree of deletion of these two new HBB gene deletion mutants and analyzed their specific deletion locations by multiplex ligation-dependent probe amplification (MLPA), reverse breakpoint polymerase chain reaction (GAP-PCR), and sanger DNA sequencing.
Two new deletion mutants of the HBB gene were identified. First, a 49% decrease in the expression of the third exon of the HBB gene was detected by MLPA testing, and then proband 1 and her mother were found to have HBB: exon3del and proband 2 and her mother to have HBB: c.-81A > C by GAP-PCR and sanger sequencing.
When the blood phenotype and clinical manifestations do not match the genotype, the presence of new mutants should be considered, and attention should be paid to further testing to avoid missing the diagnosis, which can help in clinical diagnosis and treatment, prenatal diagnosis and genetic counseling.
-地中海贫血是一种常见的遗传性溶血性疾病，由 HBB 基因突变引起。对 2 例 HBB 基因缺失突变的β-地中海贫血患者及其家系成员进行基因分析。
分析其临床表现和血液表型检测。我们通过多重连接依赖性探针扩增（MLPA）、反向断点聚合酶链反应（GAP-PCR）和桑格 DNA 测序检测这两种新的 HBB 基因缺失突变体的近似缺失程度，并分析其特定的缺失位置。
鉴定出 2 个新的 HBB 基因突变体。首先，MLPA 检测发现 HBB 基因第三外显子的表达减少了 49%，然后通过 GAP-PCR 和桑格测序发现先证者 1 和她的母亲存在 HBB:exon3del，先证者 2 和她的母亲存在 HBB:c.-81A>G。
当血液表型和临床表现与基因型不匹配时，应考虑存在新的突变体，并应注意进一步检测，以避免漏诊，这有助于临床诊断和治疗、产前诊断和遗传咨询。
