Abstract：
We reported a rare β-thalassemia patient, a 41-year-old Chinese male with small cell hypopigmentation anemia, jaundice and splenomegaly as the main clinical symptoms. By using Next-Generation Sequencing (NGS), we identified a novel de novo HBB mutation(c.358_365dup, p.Phe123Alafs*39) which resulted in an abnormally prolonged β-globin chain comprising 159 amino acid residues. The secondary and three-dimensional structures of the β-globin predicted that the novel prolonged β-globin chain has a considerable risk of instability in the hemoglobin, and leads to clinical phenotype. This study contributes to the enrichment of the genetic pathogenic mutation database for thalassemia and underscores the significance of NGS in the screening of mutations for thalassemia families.
摘要：
我们报道了一位罕见的β-地中海贫血患者,一名41岁的中国男性患有小细胞色素减退性贫血，以黄疸和脾肿大为主要临床症状。通过使用下一代测序(NGS)，我们确定了一个新的从头HBB突变(c.358_365dup，p.Phe123Alafs*39），导致包含159个氨基酸残基的异常延长的β-珠蛋白链。β-珠蛋白的二级和三维结构预测，新型延长的β-珠蛋白链在血红蛋白中具有相当大的不稳定风险，并导致临床表型。这项研究有助于丰富地中海贫血的遗传致病突变数据库，并强调了NGS在地中海贫血家族突变筛查中的重要性。
