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

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

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...

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Veröffentlicht in:Frontiers in pediatrics 2021-07, Vol.9
Hauptverfasser: Xiong, Shiqiu, Jia, Yang, Li, Shijun, Huang, Peng, Xiong, Jie, Mao, Dingan, He, Qingnan, Liu, Liqun
Format: Artikel
Sprache:eng
Schlagworte:
ABCB7 gene
ataxia
Pediatrics
sideroblastic anemia
X-linked sideroblastic anemia with ataxia
XLSA/A
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Zusammenfassung: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
ISSN:2296-2360
2296-2360
DOI:10.3389/fped.2021.692459