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A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia.

Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology - 1 Jan 2018

Xian Xiaoying, Liao Lin, Shu Wei, Li Hongtao, Qin Yuanyuan, Yan Jie, Luo Jianming, Lin Fa-Quan

Abstract excerpt

BACKGROUND/AIMS: Thiamine-responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder resulting from mutations in SLC19A2, and is mainly characterized by megaloblastic anemia, diabetes, and progressive sensorineural hearing loss. METHODS: We study a Chinese Zhuang ethnicity family with thiamine-responsive megaloblastic anemia. The proband of the study presented with anemia and diabetes,...

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Anemia, Megaloblastic
Asian People
China
Diabetes Mellitus
Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hearing Loss, Sensorineural

Membrane Transport Proteins

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PMID: 29969779
DOI: 10.1159/000491467

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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