The First Case Report of X-Linked Sideroblastic Anemia With Ataxia of Chinese Origin and Literature Review

• Main Authors: Shiqiu Xiong (Author), Yang Jia (Author), Shijun Li (Author), Peng Huang (Author), Jie Xiong (Author), Dingan Mao (Author), Qingnan He (Author), Liqun Liu (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare X-liked inherited disease, which was linked to the ABCB7 gene mutations. So far, five families have been reported worldwide. We present the first Chinese family of XLSA/A with novel ABCB7 gene mutation (c.2024A > G) and make a retrospec...