Third-generation sequencing identified a novel complex variant in a patient with rare alpha-thalassemia

• Main Authors: Cong Zhou (Author), Yepei Du (Author), Haixia Zhang (Author), Xing Wei (Author), Rui Li (Author), Jing Wang (Author)
• Format: Book
• Published: BMC, 2024-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Thalassemias represent some of the most common monogenic diseases worldwide and are caused by variations in human hemoglobin genes which disrupt the balance of synthesis between the alpha and beta globin chains. Thalassemia gene detection technology is the gold standard to achiev...