A systematic review of hereditary spherocytosis reported in Chinese biomedical journals from 1978 to 2013 and estimation of the prevalence of the disease using a disease model

Wang, Chao; Cui, Yazhou; Li, Yan; Liu, Xiao; Han, Jinxiang

doi:10.5582/irdr.2015.01002

Cited by 59 publications

(58 citation statements)

References 15 publications

(14 reference statements)

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“…The prevalence of HS in North America and northern Europe is 1/2,000 [22, 32]. Wang et al [45] measured the prevalence of HS in China from 1978 to 2013 using DisMod-II software; it was 1.27/100,000 in males and 1.49/100,000 in females. Historically, experimental methods, such as peripheral blood smear, red blood cell osmotic fragility test, acidified glycerin hemolysis test, and SDS-PAGE, have had low sensitivity and specificity.…”

Section: Summary and Prospectsmentioning

confidence: 99%

Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives

Liao

Deng

et al. 2018

Acta Haematol

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With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-related genes, including SPTA1, SPTB, ANK1, SLC4A1, and EPB42. However, mutations in HS-related genes are dispersed and nonspecific in the diagnosis of some HS patients, indicating significant heterogeneity in the molecular deficiency of HS. It is necessary to provide the molecular and genetic characteristics of these 5 genes for clinicians to examine HS. Here, we reviewed the recent proposed molecular genetic mechanisms of HS.

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Section: Summary and Prospectsmentioning

confidence: 99%

Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives

Liao

Deng

et al. 2018

Acta Haematol

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“…HS can be observed in all populations, although Caucasians have the highest incidence [2]. Among Chinese populations, the incidence of HS is approximately 1/ 100000 [3]. Typical clinical manifestations of HS include anaemia, haemolysis, jaundice, splenomegaly and gallstones [4].…”

Section: Introductionmentioning

confidence: 99%

Targeted next-generation sequencing identified a novel ANK1 mutation associated with hereditary spherocytosis in a Chinese family

Sun

Xie

et al. 2019

Hematology

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2019) Targeted next-generation sequencing identified a novel ANK1 mutation associated with hereditary spherocytosis in a Chinese family, Hematology, 24:1, 583-587, ABSTRACTObjectives: Hereditary spherocytosis (HS) represents a group of congenital diseases characterized by sphere-shaped erythrocytes on peripheral blood smears. The typical clinical manifestations of HS include haemolysis, jaundice, splenomegaly, and gallstones. Ankyrin1, encoded by the ANK1 gene, is the predominant protein in red blood cells. Defects in ankyrin1 lead to a decrease in erythrocyte surface area, a spherical shape of erythrocytes and, in particular, loss of membrane elasticity and mechanical stability. The purpose of this study was to investigate a Chinese family with HS to determine the causative gene mutation and explore the genotype-phenotype correlation. Methods: A 4-year-old boy was diagnosed with HS based on typical clinical features. In addition, his father had a high possibility of HS. Targeted next-generation sequencing (NGS) followed by Sanger sequencing was performed in the proband and his parents. Results: One mutation in the ANK1 gene was recognized. c1801-1G > C in exon 17, which leads to splicing defects, was detected. To confirm the c1801-1G > C variant, samples from the proband and his parents were analysed by Sanger sequencing, and Sanger verification showed that this mutation was inherited from the father. Conclusion: The present study confirmed that a novel mutation in ANK1 may be causative of HS, which plays an important role in expanding the mutational spectrum of ANK1 mutations. This may contribute to accurate genetic counselling. And it is helpful for understanding the correlation of the genotype and phenotype.

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“…The disease can occur in all parts of the world, and the incidence rate varies in different regions. The incidence of HS in Northern Europe is about 1/2000 (3), while in China, the incidence of HS in adult is about 1/100,000 (4). The clinical manifestations of the patients varied greatly.…”

Section: Introductionmentioning

confidence: 99%

Clinical manifestations and phenotypic analysis of new ANK1 gene mutations in 12 Chinese children with hereditary spherocytosis

Xie

Lei

Cai

et al. 2019

Preprint

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2【Abstract】Objective To summarize the clinical features and laboratory examination of ANK1 gene in 12 children with hereditary spherocytosis in China, and to determine the genetic mutations in those children. Methods The clinical data of children and their parents were collected and analyzed. The sequence of related genes was analyzed by second-generation sequencing technology. The suspected pathogenic mutations were detected by Sanger sequencing. Results New mutations in the coding region of ANK1 was detected in 12 patients, which caused amino acid changes in the gene encoding, causing structural changes or loss of function. 4739A>G) mutations in the coding region of the gene are the cause of suspicious disease in these 12 Chinese children. At the same time, second-generation gene sequencing technology is an effective means of confirming HS. Different types of mutations (P=0.388)and different mutation areas (P=0.660)had no significant effect on the severity of anemia. The 12 gene mutation sites in this study have not been included in the human genome database, dbSNP (v138) and ExAC databases. The new ANK1 gene mutations found in HS children can provide further exploration of the genetic etiology of HS in Chinese population.

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A systematic review of hereditary spherocytosis reported in Chinese biomedical journals from 1978 to 2013 and estimation of the prevalence of the disease using a disease model

Cited by 59 publications

References 15 publications

Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives

Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives

Targeted next-generation sequencing identified a novel ANK1 mutation associated with hereditary spherocytosis in a Chinese family

Clinical manifestations and phenotypic analysis of new ANK1 gene mutations in 12 Chinese children with hereditary spherocytosis

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