A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man

• Main Authors: Jinbo Huang (Author), Meili Ge (Author), Yingqi Shao (Author), Min Wang (Author), Peng Jin (Author), Jiali Huo (Author), Xingxin Li (Author), Jing Zhang (Author), Neng Nie (Author), Yizhou Zheng (Author)
• Format: Book
• Published: BMC, 2021-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia (CSA), and is associated with the mutations in the 5-aminolevulinate synthase 2 (ALAS2). The genetic basis of more than 40% of CSA cases remains unknown. Methods A two-generation Chine...