Identification of a Novel 7-bp Deletion in the α-Globin Gene Cluster in One Chinese Family.

Abstract excerpt

Deletional α-thalassemia is characterized by reduced hemoglobin A2 and involves the deletion of a few nucleotides, which is a rare hereditary disease. However, the detection of rare mutations using commonly used genetic tests is highly challenging. In the present study, next-generation sequencing (NGS) was used to identify a novel 7-bp deletion α-thalassemia in one individual from a Chinese family. Hematological...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to alpha-Globins
• Share to alpha-Thalassemia
• Share to East Asian People