Sun Manna, Lou Jiwu, Zhao Ying, Liu Yanhui
a Prenatal Diagnosis Center, Dongguan Maternal and Child Health Hospital , Dongguan , Guangdong Province , People's Republic of China.
Hemoglobin. 2018 Mar;42(2):132-134. doi: 10.1080/03630269.2018.1458628. Epub 2018 May 3.
We identified two novel δ-globin gene mutations in two families during routine thalassemia screening. One missense mutation at codon 73 on the δ-globin gene [δ73(E17)Asp→Val, HBD: c.221A>T] which results in a Hb A variant homologous to the β-globin gene variant called Hb Mobile [β73(E17)Asp→Val, HBB: c.221A>T] and we have named this variant Hb A-Henan. The other is a nonsense mutation [δ7(A4)Glu→Stop, HBD: c.22G>T] which gives rise to a stop codon (TAG) at codon 7, resulting in δ-thalassemia (δ-thal). The Hb A in one individual with homozygous HBD: c.22G>T was absent.
在常规地中海贫血筛查过程中，我们在两个家族中鉴定出两种新的δ-珠蛋白基因突变。一种是δ-珠蛋白基因第73密码子的错义突变[δ73(E17)Asp→Val，HBD:c.221A>T]，该突变导致一种与名为Hb Mobile的β-珠蛋白基因突变体[β73(E17)Asp→Val，HBB:c.221A>T]同源的Hb A变异体，我们将该变异体命名为Hb A-Henan。另一种是无义突变[δ7(A4)Glu→Stop，HBD:c.22G>T]，该突变在第7密码子处产生一个终止密码子(TAG)，导致δ-地中海贫血(δ-thal)。一名纯合HBD:c.22G>T个体的Hb A缺失。
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