Frontiers in Pediatrics (Jul 2021)

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

  • Shiqiu Xiong,
  • Yang Jia,
  • Shijun Li,
  • Peng Huang,
  • Peng Huang,
  • Jie Xiong,
  • Jie Xiong,
  • Dingan Mao,
  • Dingan Mao,
  • Qingnan He,
  • Liqun Liu,
  • Liqun Liu

DOI
https://doi.org/10.3389/fped.2021.692459
Journal volume & issue
Vol. 9

Abstract

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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 retrospective literature review. All affected patients were male. Age of symptom onset was <2 years old. The main symptoms included ataxia, delay in motor development, and mild sideroblastic anemia with obviously increased erythrocyte protoporphyrin. In this case, he had new symptoms that had not been reported in other cases such as epilepsy and cryptorchidism. We also discuss the possible molecular mechanism linking ABCB7 gene mutations to sideroblastic anemia and ataxia.

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