Old and new insights into the diagnosis of hereditary spherocytosis

被引：35

作者：

Ciepiela, Olga ^{[1
]}

机构：

[1] Med Univ Warsaw, Dept Lab Diagnost, Banacha 1a, PL-02097 Warsaw, Poland

来源：

ANNALS OF TRANSLATIONAL MEDICINE | 2018年 / 6卷 / 17期

关键词：

Complete blood count (CBC); ektacytometry; eosin-5 '-maleimide; hereditary spherocytosis (HS); OSMOTIC GRADIENT EKTACYTOMETRY; FLOW-CYTOMETRIC TEST; EOSIN-5-MALEIMIDE BINDING TEST; MEAN RETICULOCYTE VOLUME; SPHERED CELL-VOLUME; SCREENING-TEST; FRAGILITY TEST; GEL-ELECTROPHORESIS; CORPUSCULAR VOLUME; CRYOHEMOLYSIS TEST;

D O I：

10.21037/atm.2018.07.35

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页数：10

共 83 条

[1] Improved Harmonization of Eosin-5-Maleimide Binding Test Across Different Instruments and Age Groups [J].

Agarwal, Archana M. ;

Liew, Michael A. ;

Nussenzveig, Roberto H. ;

Sangle, Nikhil ;

Heikal, Nahla ;

Yaish, Hassan ;

Christensen, Robert .

CYTOMETRY PART B-CLINICAL CYTOMETRY, 2016, 90 (06) :512-516

[2]

[Anonymous], BMJ CASE REP

[3]

[Anonymous], 26 WORLD C INT SOC H

[4]

[Anonymous], DIAGN LAB

[5]

[Anonymous], BIOINSPIRATION BIOMI

[6] Flow cytometric osmotic fragility test and eosin-5′-maleimide dye-binding tests are better than conventional osmotic fragility tests for the diagnosis of hereditary spherocytosis [J].

Arora, R. D. ;

Dass, J. ;

Maydeo, S. ;

Arya, V ;

Radhakrishnan, N. ;

Sachdeva, A. ;

Kotwal, J. ;

Bhargava, M. .

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2018, 40 (03) :335-342

[7] Utility of mean sphered cell volume and mean reticulocyte volume for the diagnosis of hereditary spherocytosis [J].

Arora, Rahul Darshan ;

Dass, Jasmita ;

Maydeo, Seema ;

Arya, Vandana ;

Kotwal, Jyoti ;

Bhargava, Manorama .

HEMATOLOGY, 2018, 23 (07) :413-416

[8] Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism [J].

Berardi, Alberto ;

Lugli, Licia ;

Ferrari, Fabrizio ;

Gargano, Giancarlo ;

D'Apolito, Maria ;

Marrone, Agnese ;

Iolascon, Achille .

BIOLOGY OF THE NEONATE, 2006, 90 (04) :243-246

[9] Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics [J].

Bianchi, Paola ;

Fermo, Elisa ;

Vercellati, Cristina ;

Marcello, Anna P. ;

Porretti, Laura ;

Cortelezzi, Agostino ;

Barcellini, Wilma ;

Zanella, Alberto .

HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2012, 97 (04) :516-523

[10] Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus [J].

Bogardus, Hannah ;

Schulz, Vincent P. ;

Maksimova, Yelena ;

Miller, Barbara A. ;

Li, Peining ;

Forget, Bernard G. ;

Gallagher, Patrick G. .

HAEMATOLOGICA, 2014, 99 (09) :E168-E170

← 1 2 3 4 5 6 7 8 9 →