Genetic counseling and prenatal decision for hemoglobin H disease caused by the rare α2 codon 30 (-GAG) (HBA2: c.91_93delGAG) mutation and the SEA deletion: Case series study

• Main Authors: Zhi-Yang Guan (Author), Ze-Yan Zhong (Author), Hai-Lin He (Author), Dan Chen (Author), Guo-Xing Zhong (Author), Kun-Xiang Yang (Author), Jian-Hong Chen (Author)
• Format: Knjiga
• Izdano: Elsevier, 2021-07-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Objective: We report a rare mutation on the α2-globin gene, HBA2: c.91_93delGAG and its potential functions. Case Report: We mainly described four patients with hemoglobin (Hb) H disease caused by the rare mutation and the SEA deletion but diversity in clinical presentation. Two had survived to adul...