PMID- 33868383
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220422
IS  - 1664-8021 (Print)
IS  - 1664-8021 (Electronic)
IS  - 1664-8021 (Linking)
VI  - 12
DP  - 2021
TI  - Preliminary Study on the Clinical and Genetic Characteristics of Hereditary 
      Spherocytosis in 15 Chinese Children.
PG  - 652376
LID - 10.3389/fgene.2021.652376 [doi]
LID - 652376
AB  - OBJECTIVE: To investigate the clinical and genetic characteristics of hereditary 
      spherocythemia (HS) in Chinese children, and to analyze the potential 
      genotypic/phenotypic associations. METHODS: The clinical data and gene test 
      results of children with HS were collected. All patients were diagnosed by gene 
      test results, and the laboratory results were obtained before splenectomy. The 
      data of red blood cell (RBC), hemoglobin (HB), mean red blood cell volume (MCV), 
      mean red blood cell hemoglobin (MCH), mean red blood cell hemoglobin 
      concentration (MCHC), and hematocrit (HCT) were statistically analyzed according 
      to different mutation genes. Statistical methods for comparison between groups 
      Mann-Whitney test analysis, two-terminal p < 0.05 was considered significant 
      difference. RESULTS: A total of 15 children were enrolled in our hospital, and 14 
      variants were found (nine variants have not been reported before), including 10 
      ANK1 mutations (seven ANK1 truncated mutations) and five SPTB mutations. Patients 
      with ANK1 mutations had more severe anemia than those with SPTB mutations 
      (significantly lower RBC, HB, MCHC, and HCT). CONCLUSION: This is one of the few 
      studies on the genetic and clinical characteristics of children with HS in China. 
      This study identified the unique genetic and clinical characteristics of Chinese 
      children with HS and analyzed the pathogenic genotype-phenotypic association. The 
      results confirmed that the anemia degree of HS patients caused by ANK1 was more 
      serious than that of patients with SPTB deficiency. However, further study of the 
      correlation between genotype and phenotype requires a larger sample size.
CI  - Copyright (c) 2021 Wu, Xiong, Xu, Zhan, Chen, Ye, Wang and Yang.
FAU - Wu, Chongjun
AU  - Wu C
AD  - The Affiliated Children's Hospital of Nanchang University, Nanchang, China.
AD  - Department of Hematology, Jiangxi Provincial Children's Hospital, Nanchang, 
      China.
FAU - Xiong, Ting
AU  - Xiong T
AD  - Department of Endocrine Genetics and Metabolism, Jiangxi Provincial Children's 
      Hospital, Nanchang, China.
FAU - Xu, Zhongjin
AU  - Xu Z
AD  - Department of Hematology, Jiangxi Provincial Children's Hospital, Nanchang, 
      China.
FAU - Zhan, Chunlei
AU  - Zhan C
AD  - Department of Gastroenterology, Jiangxi Provincial Children's Hospital, Nanchang, 
      China.
FAU - Chen, Feng
AU  - Chen F
AD  - Department of Hematology, Jiangxi Provincial Children's Hospital, Nanchang, 
      China.
FAU - Ye, Yao
AU  - Ye Y
AD  - Department of Hematology, Jiangxi Provincial Children's Hospital, Nanchang, 
      China.
FAU - Wang, Hong
AU  - Wang H
AD  - Department of Hematology, Jiangxi Provincial Children's Hospital, Nanchang, 
      China.
FAU - Yang, Yu
AU  - Yang Y
AD  - The Affiliated Children's Hospital of Nanchang University, Nanchang, China.
AD  - Department of Endocrine Genetics and Metabolism, Jiangxi Provincial Children's 
      Hospital, Nanchang, China.
LA  - eng
PT  - Journal Article
DEP - 20210318
PL  - Switzerland
TA  - Front Genet
JT  - Frontiers in genetics
JID - 101560621
PMC - PMC8044778
OTO - NOTNLM
OT  - ANK1
OT  - SPTB
OT  - children
OT  - hereditary spherocytosis
OT  - mutation
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2021/04/20 06:00
MHDA- 2021/04/20 06:01
PMCR- 2021/03/18
CRDT- 2021/04/19 06:22
PHST- 2021/01/12 00:00 [received]
PHST- 2021/03/01 00:00 [accepted]
PHST- 2021/04/19 06:22 [entrez]
PHST- 2021/04/20 06:00 [pubmed]
PHST- 2021/04/20 06:01 [medline]
PHST- 2021/03/18 00:00 [pmc-release]
AID - 10.3389/fgene.2021.652376 [doi]
PST - epublish
SO  - Front Genet. 2021 Mar 18;12:652376. doi: 10.3389/fgene.2021.652376. eCollection 
      2021.