Prenatal diagnosis of a rare β‐thalassemia gene －90 (C > T) (HBB: c. ‐140 C > T) mutation associated with deletional Hb H disease ( ‐‐SEA/‐α4.2)

ConclusionWe reported a rare －90 (C>T) (HBB: c. ‐140 C>T) mutation combined with the ‐‐SEA/ ‐α4.2 in a family. This finding enriched the mutation spectrum of thalassemia molecular characteristics in China and emphasized the significance in DNA sequencing in mutation screening for the families with thalassemia.

Source: Molecular Genetics & Genomic Medicine - September 2, 2020 Category: Genetics & Stem Cells Authors: Hou Qian, Jianlin Huang, Ji Xu, Weihua Zhao, Xiufeng Ye, Wenlan Liu Tags: CLINICAL REPORT Source Type: research