Prenatal Diagnosis Unit, Gansu Provincial Maternity and Child Care Hospital, Lanzhou, Gansu Province, People's Republic of China.
Prenatal Diagnostic Center, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong Province, People's Republic of China.
Hemoglobin. 2020 Jul;44(4):240-243. doi: 10.1080/03630269.2020.1793774. Epub 2020 Jul 16.
The -50 (G>A) (: c.-100G>A) mutation was first reported as a β-thalassemia (β-thal) allele in a Chinese family. However, the hematological features of carriers with this variant are not available. In this study, we present the hematological data associated with -50 (G>A) to determine its phenotype. During a 4-year period, eight simple heterozygotes and three double heterozygotes for the -50 mutation and α-thalassemia (α-thal) were included. The simple heterozygotes had normal hematological parameters. The double heterozygotes had the hematological findings of simple α-thal heterozygotes. Two subjects with a compound heterozygosity for -50 and β-thal were also found, and both had typical hematological parameters of β-thal trait. Therefore, we present evidence that -50 (G>A) is likely a silent β-thal allele. Compound heterozygotes for -50/β-thal had no phenotype of severe β-thal. This information might be helpful in genetic counseling for couples in thalassemia high-prevalence areas.
-50（G>A）（：c.-100G>A）突变首先在一个中国家庭中被报道为β-地中海贫血（β-thal）等位基因。然而，带有这种变体的携带者的血液学特征尚不清楚。在这项研究中，我们提供了与 -50（G>A）相关的血液学数据，以确定其表型。在 4 年期间，纳入了 8 名 -50 突变和α-地中海贫血（α-thal）的单纯杂合子和 3 名双重杂合子。单纯杂合子的血液学参数正常。双重杂合子具有单纯α-地中海贫血杂合子的血液学发现。还发现了 2 名 -50 和β-地中海贫血复合杂合子的患者，两者均具有β-地中海贫血特征的典型血液学参数。因此，我们提供的证据表明 -50（G>A）可能是一个沉默的β-地中海贫血等位基因。-50/β-地中海贫血的复合杂合子没有严重β-地中海贫血的表型。这些信息可能有助于地中海贫血高发地区夫妇的遗传咨询。
