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Hematology Volume 27, 2022 - Issue 1
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Research Article

The -α3.7III subtype of α+-thalassemia was identified in China

Xiuqin Baoa Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaView further author information
,
Jicheng Wanga Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaView further author information
,
Danqing Qina Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaView further author information
,
Rui Zhangd Prenatal Diagnosis Center, Huizhou Second Maternal and Child Health Care Hospital, Huizhou, People’s Republic of ChinaView further author information
,
Cuize Yaoa Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaView further author information
,
Jie Lianga Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaView further author information
,
Kailing Lianga Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaView further author information
&
Li Dua Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaCorrespondence[email protected]
View further author information
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Pages 826-830 | Published online: 02 Aug 2022

References

  • Higgs DR, Gibbons RJ. The molecular basis of alpha-thalassemia: a model for understanding human molecular genetics. Hematol Oncol Clin North Am. 2010;24:1033–1054.
  • Yin A, Li B, Luo M, et al. The prevalence and molecular spectrum of alpha- and beta-globin gene mutations in 14,332 families of Guangdong Province, China. Plos One. 2014;9:e89855.
  • Xiong F, Sun M, Zhang X, et al. Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang autonomous region of southern China. Clin Genet. 2010;78:139–148.
  • Shang X, Peng Z, Ye Y, et al. Rapid targeted next-generation sequencing platform for molecular screening and clinical genotyping in subjects with hemoglobinopathies. EBioMedicine. 2017;23:150–159.
  • Harteveld CL, Higgs DR. Alpha-thalassaemia. Orphanet J Rare Dis. 2010;5:13.
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  • Philippon G, Martinson JJ, Rugless MJ, et al. Alpha-thalassaemia and globin gene rearrangements in French Polynesia. Eur J Haematol. 1995;55:171–177.
  • Charoenwijitkul T, Singha K, Fucharoen G, et al. Molecular characteristics of alpha(+)-thalassemia (3.7 kb deletion) in Southeast Asia: Molecular subtypes, haplotypic heterogeneity, multiple founder effects and laboratory diagnostics. Clin Biochem. 2019;71:31–37.
  • Bao X, Qin D, Ma J, et al. Accurate detection of alpha-globin gene copy number variants with two reactions using droplet digital PCR. Hematology. 2022;27:198–203.
  • Shaulov A, Filon D, Rund D. Haplotype analysis of alpha-thalassemia chromosomes reveals heterogeneity and multiple founders in Ashkenazi Jews. Eur J Med Genet. 2016;59:555–558.
  • Xu L, Mao A, Liu H, et al. Long-molecule sequencing: A new approach for identification of clinically significant DNA variants in alpha-thalassemia and beta-thalassemia carriers. J Mol Diagn. 2020;22:1087–1095.

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