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[Genetic Mutation Characteristics of Glucose-6-Phosphate Dehydrogenase Deficiency Patients in Wuhan]

Hui Li1, Yu-Fei Jiang1, Tang-Xin-Zi Gao1

  • 1Department of Clinical Laboratory Examination, Maternal and Child Health Hospital of Hubei Province, Wuhan 430070, Hubei Province, China.

Zhongguo Shi Yan Xue Ye Xue Za Zhi
|February 6, 2022
PubMed

Insights

This study identified 18 glucose-6-phosphate dehydrogenase (G6PD) mutations in Wuhan, with c.1388G>A, c.1376G>T, and c.95G>A being the most prevalent. Three novel mutations were reported in the Chinese population.

Area of Science:

  • Genetics
  • Biochemistry
  • Molecular Biology

Background:

  • Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited red blood cell disorder.
  • Understanding G6PD mutation profiles is crucial for diagnosis and management, particularly in diverse populations.

Purpose of the Study:

  • To investigate the genotype mutation characteristics of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Wuhan.
  • To identify prevalent G6PD mutations in the Chinese population within this region.

Main Methods:

  • Analyzed 1,321 neonates and outpatients with positive G6PD screening results.
  • Utilized multicolor melting curve analysis (MMCA) to detect 12 common G6PD mutations.
  • Performed enzyme activity analysis and clinical information review for negative cases, with optional sequencing.

Main Results:

  • Detected 768 mutations among 1,321 patients, yielding a detection rate of 58.1%.
  • Identified 18 distinct G6PD genotypes, including common mutations like c.1388G>A, c.1376G>T, and c.95G>A.
  • Reported 683 male hemizygotes, 3 female homozygotes, and 82 female heterozygotes/compound heterozygotes.

Conclusions:

  • A total of 18 G6PD mutation types were identified in the Wuhan population.
  • Three mutations (c.94C>G, c.1028A>G, c.1327G>C) are reported for the first time in the Chinese population.
  • The most frequent G6PD mutations in Wuhan are c.1388G>A, c.1376G>T, and c.95G>A, providing valuable genetic data.
Abstract

Keywords:
glucose-6-phosphate dehydrogenasemutationnewbornreproductive-aged female

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