Article
Compound Heterozygosity for a Novel Mutation Codon 104 (-A) (HBB: c.313delA) and Codons 41/42 (-CTTT) (HBB: c.126_129delCTTT) Leading to β-Thalassemia Major in a Chinese Family.
Hemoglobin - 1 Nov 2020
Qiu Yuling, Huang Yuanyuan, Chen Ping, Wei Shilu, Su Qisheng, Zhang Zunni, Yang Zheng, Ye Lihua, Huang Jun, Shen Xuelian, Mo Wuning
Abstract excerpt
β-Thalassemia (β-thal) is a hereditary blood disorder characterized by the reduced or absent synthesis of β-globin chains. Here, we report a case of severe thalassemia with compound heterozygosity for a novel deletion mutation at codon 104 (-A) (HBB: c.313delA) and codons 41/42 (-CTTT) (HBB: c.126_129delCTTT) on the β-globin gene (HBB), and a coinheritance of the -α4.2 (leftward) deletion on the α-globin gene...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.