Zhao Yuan, Huang Lv-Yin, Jiang Fan, Zhou Jian-Ying, Xie Xing-Mei, Li Dong-Zhi
a Prenatal Diagnosis Unit , Gansu Provincial Maternity and Child-Care Hospital , Lanzhou , Gansu Province , People's Republic of China.
b Prenatal Diagnostic Center, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University , Guangzhou , Guangdong Province , People's Republic of China.
Hemoglobin. 2017 Jul-Nov;41(4-6):274-277. doi: 10.1080/03630269.2017.1412984.
The combination of β-thalassemia (β-thal) and a hemoglobin (Hb) variant is not uncommon in regions with a high prevalence of thalassemia. Although most of the β-globin chain variants will not aggravate the β-thal, some can compromise the accurate molecular diagnosis. In this study, we present a rare case of coinheritance of β-thal and Hb Hornchurch [β43(CD2)Glu→Lys; HBB: c.130G>A], that compromises the molecular diagnosis of homozygous β-thal.
在地中海贫血高发地区，β地中海贫血（β-thal）与血红蛋白（Hb）变异体同时存在的情况并不少见。尽管大多数β珠蛋白链变异体不会加重β地中海贫血，但有些变异体会影响准确的分子诊断。在本研究中，我们报告了一例罕见的β地中海贫血与Hb Hornchurch [β43(CD2)Glu→Lys; HBB: c.130G>A] 共遗传的病例，该病例影响了纯合子β地中海贫血的分子诊断。
