Molecular Biology and Biotechnology Department, Human Genetics Div, Atomic Energy Commission of Syria, Damascus, Syria.
Mol Genet Genomic Med. 2021 Mar;9(3):e1602. doi: 10.1002/mgg3.1602. Epub 2021 Jan 24.
CAP+1 [A>C] (HBB:c.-50A>C) is a rare silent β-thalassemia (β-thal) mutation. Carrier individuals of this mutation show borderline hemoglobin (Hb), mean corpuscular volume (MCV) and Hb A2 levels. This mutation was previously reported in combination with different β-thalassemia mutations, leading to variable phenotypes.
Here, we describe for the first time the combination of silent CAP+1 [A>C] (HBB:c.-50A>C) mutation with β codon 5 [-CT] (HBB:c.17_18delCT) mutation in a Syrian proband, leading to beta thalassemia intermedia (TI).
The compound heterozygotes of the silent CAP+1 (A>C) together with another severe beta gene mutation, are phenotypically severe enough to present at an early age and require appropriate therapeutic modalities.
CAP+1 [A>C]（HBB:c.-50A>C）是一种罕见的无声β-地中海贫血（β-地贫）突变。该突变的携带者表现出血红蛋白（Hb）、平均红细胞体积（MCV）和 Hb A2 水平的临界值。该突变之前曾与不同的β-地中海贫血突变组合报告，导致不同的表型。
在这里，我们首次描述了无声 CAP+1 [A>C]（HBB:c.-50A>C）突变与β 密码子 5[-CT]（HBB:c.17_18delCT）突变在叙利亚先证者中的组合，导致中间型β-地中海贫血（TI）。
无声 CAP+1（A>C）的复合杂合子与另一个严重的β 基因突变，表型严重到足以在早期出现，并需要适当的治疗方式。
