Literature DB >> 30306078

Old and new insights into the diagnosis of hereditary spherocytosis.

Olga Ciepiela1.   

Abstract

Hereditary spherocytosis (HS) belongs to the group of congenital hemolytic anemias resulting from plasma membrane protein deficiency. When diagnosed too late, HS bares the risk of long-term complications including gall stones and severe anemia. Here, there are discussed advances in HS screening and diagnostics, with a particular focus on methodologies, most of which are available in clinical laboratories worldwide.

Entities:  

Keywords:  Complete blood count (CBC); ektacytometry; eosin-5’-maleimide; hereditary spherocytosis (HS)

Year:  2018        PMID: 30306078      PMCID: PMC6174190          DOI: 10.21037/atm.2018.07.35

Source DB:  PubMed          Journal:  Ann Transl Med        ISSN: 2305-5839


  80 in total

1.  A de novo band 3 mutation in hereditary spherocytosis.

Authors:  Hannah H Bogardus; Yelena D Maksimova; Bernard G Forget; Patrick G Gallagher
Journal:  Pediatr Blood Cancer       Date:  2011-12-13       Impact factor: 3.167

2.  Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.

Authors:  J Park; D-C Jeong; J Yoo; W Jang; H Chae; J Kim; A Kwon; H Choi; J W Lee; N-G Chung; M Kim; Y Kim
Journal:  Clin Genet       Date:  2016-03-15       Impact factor: 4.438

3.  Flow cytometry as a diagnostic tool for hereditary spherocytosis.

Authors:  Gudrun Stoya; Bernd Gruhn; Heinz Vogelsang; Eckehard Baumann; Werner Linss
Journal:  Acta Haematol       Date:  2006       Impact factor: 2.195

4.  Usefulness of the eosin-5'-maleimide cytometric method as a first-line screening test for the diagnosis of hereditary spherocytosis: comparison with ektacytometry and protein electrophoresis.

Authors:  François Girodon; Loïc Garçon; Emilie Bergoin; Marie Largier; Jean Delaunay; Madeleine Fénéant-Thibault; Marc Maynadié; Gérard Couillaud; Sophie Moreira; Thérèse Cynober
Journal:  Br J Haematol       Date:  2007-12-19       Impact factor: 6.998

5.  Delay in the measurement of eosin-5′-maleimide (EMA) binding does not affect the test result for the diagnosis of hereditary spherocytosis.

Authors:  Olga Ciepiela; Iwona Kotuła; Elżbieta Górska; Anna Stelmaszczyk-Emmel; Katarzyna Popko; Anna Szmydki-Baran; Anna Adamowicz-Salach; Urszula Demkow
Journal:  Clin Chem Lab Med       Date:  2013-04       Impact factor: 3.694

6.  Erythrocyte membrane protein analysis by sodium dodecyl sulphate-capillary gel electrophoresis in the diagnosis of hereditary spherocytosis.

Authors:  France Debaugnies; Frédéric Cotton; Charles Boutique; Béatrice Gulbis
Journal:  Clin Chem Lab Med       Date:  2011-01-14       Impact factor: 3.694

7.  A comparative evaluation of Eosin-5'-maleimide flow cytometry reveals a high diagnostic efficacy for hereditary spherocytosis.

Authors:  P Joshi; A Aggarwal; M Jamwal; M U S Sachdeva; D Bansal; P Malhotra; P Sharma; R Das
Journal:  Int J Lab Hematol       Date:  2016-06-24       Impact factor: 2.877

8.  Evaluation of a Flow-Cytometric Osmotic Fragility Test for Hereditary Spherocytosis in Chinese Patients.

Authors:  Yi-Feng Tao; Zeng-Fu Deng; Lin Liao; Yu-Ling Qiu; Xue-Lian Deng; Wen-Qiang Chen; Fa-Quan Lin
Journal:  Acta Haematol       Date:  2015-10-28       Impact factor: 2.195

9.  Identification of a novel p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis.

Authors:  Joo Hyung Han; Seung Kim; Hoon Jang; So Won Kim; Min Goo Lee; Hong Koh; Ji Hyun Lee
Journal:  PLoS One       Date:  2015-06-24       Impact factor: 3.240

10.  An ANK1 IVS3-2A>C mutation causes exon 4 skipping in two patients from a Chinese family with hereditary spherocytosis.

Authors:  Xiong Wang; Liyan Mao; Na Shen; Jing Peng; Yaowu Zhu; Qun Hu; Yanjun Lu
Journal:  Oncotarget       Date:  2017-12-05
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  8 in total

1.  Hereditary Spherocytosis Presenting as Diffuse Bone Marrow Activation and Splenomegaly on PSMA-Targeted 18F-DCFPyL PET/CT.

Authors:  Erin Gomez; Phuoc T Tran; Kenneth J Pienta; Martin G Pomper; Michael A Gorin; Steven P Rowe
Journal:  Clin Nucl Med       Date:  2019-04       Impact factor: 7.794

Review 2.  Associations and Disease-Disease Interactions of COVID-19 with Congenital and Genetic Disorders: A Comprehensive Review.

Authors:  Altijana Hromić-Jahjefendić; Debmalya Barh; Cecília Horta Ramalho Pinto; Lucas Gabriel Rodrigues Gomes; Jéssica Lígia Picanço Machado; Oladapo Olawale Afolabi; Sandeep Tiwari; Alaa A A Aljabali; Murtaza M Tambuwala; Ángel Serrano-Aroca; Elrashdy M Redwan; Vladimir N Uversky; Kenneth Lundstrom
Journal:  Viruses       Date:  2022-04-27       Impact factor: 5.818

3.  Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis.

Authors:  Keiko Shimojima Yamamoto; Taiju Utshigisawa; Hiromi Ogura; Takako Aoki; Takahiro Kawakami; Shoichi Ohga; Akira Ohara; Etsuro Ito; Toshiyuki Yamamoto; Hitoshi Kanno
Journal:  Hum Genome Var       Date:  2022-01-12

Review 4.  The diagnostic protocol for hereditary spherocytosis-2021 update.

Authors:  Yangyang Wu; Lin Liao; Faquan Lin
Journal:  J Clin Lab Anal       Date:  2021-10-24       Impact factor: 2.352

5.  Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing.

Authors:  Dżamila M Bogusławska; Michał Skulski; Beata Machnicka; Stanisław Potoczek; Sebastian Kraszewski; Kazimierz Kuliczkowski; Aleksander F Sikorski
Journal:  Int J Mol Sci       Date:  2021-10-12       Impact factor: 5.923

6.  Identification of a novel ANK1 mutation in hereditary spherocytosis co-existing with BWS.

Authors:  Qinghua Zhang; Chuan Zhang; Yupei Wang; Shengjv Hao; Jingyun Shi; Xuan Feng; Lei Zheng; Xin Wang; Chen Xue; Bingbo Zhou; Furong Liu; Fangping Zhao; Xuetao Li; Liangyuan Deng; Jun Hou; Zhaoyan Meng
Journal:  Mol Genet Genomic Med       Date:  2022-02-25       Impact factor: 2.183

7.  Prevalence of Congenital Hemolytic Disorders in Denmark, 2000-2016.

Authors:  Dennis Lund Hansen; Andreas Glenthøj; Sören Möller; Bart J Biemond; Kjeld Andersen; David Gaist; Jesper Petersen; Henrik Frederiksen
Journal:  Clin Epidemiol       Date:  2020-05-21       Impact factor: 4.790

8.  Mutational Characteristics of Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the Literature.

Authors:  Dong Wang; Li Song; Li Shen; Kaihui Zhang; Yuqiang Lv; Min Gao; Jian Ma; Ya Wan; Zhongtao Gai; Yi Liu
Journal:  Front Pharmacol       Date:  2021-07-16       Impact factor: 5.810

  8 in total

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