Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women and Children's Medical Center, Guangzhou Medical College, Guangzhou, China.
Fetal Diagn Ther. 2011;30(1):73-6. doi: 10.1159/000321046. Epub 2011 Apr 15.
Although δ-globin gene mutations have no clinical implications, association of β- and δ-thalassemia may lead to misdiagnosis. We describe the case of a Chinese woman who was assumed to have an α-thalassemia heterozygote, but was later shown to have β-thalassemia with a normal amount of HbA(2) caused by the -77 mutation of the δ-globin gene. This study highlights the importance of considering δ-thalassemia during β-thalassemia screening to avoid false-negative results in the detection of at-risk couples.
尽管 δ-珠蛋白基因突变没有临床意义，但β-和δ-地中海贫血的联合可能导致误诊。我们描述了一位中国女性的病例，她被认为是α-地中海贫血杂合子，但后来发现她的β-地中海贫血是由 δ-珠蛋白基因的-77 突变引起的，HbA2 含量正常。这项研究强调了在β-地中海贫血筛查中考虑δ-地中海贫血的重要性，以避免在检测高危夫妇时出现假阴性结果。
