Literature DB >> 19486364

Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi-ethnic populations.

P Van Delft1, E Lenters, M Bakker-Verweij, M de Korte, U Baylan, C L Harteveld, P C Giordano.   

Abstract

We have tested five haemoglobin (Hb) separation apparatuses, dedicated to haemoglobinopathy diagnostics. These are the four high performance liquid chromatography devices: VARIANT II, HA 8160, G7, Ultra(2) and the Capillary Electrophoresis apparatus from Sebia. In the first place, we focussed on the capacity of all apparatuses to detect the most common structural variants relevant for public health, these being HbS, HbC, HbE, HbD-Punjab and HbO-Arab. We then compared how the high HbA(2)beta-thalassaemia carriers were identified. All apparatuses were able to identify carriers of these traits with the expected sensitivity and specificity. With the primary goal of a high degree of conformity in basic diagnostics of haemoglobinopathies, we present the interpretation and the significance of the results on all apparatuses, and we comment on the unavoidable problems and solutions.

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Year:  2009        PMID: 19486364     DOI: 10.1111/j.1751-553X.2009.01158.x

Source DB:  PubMed          Journal:  Int J Lab Hematol        ISSN: 1751-5521            Impact factor:   2.877


  21 in total

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2.  The population dynamics of hemoglobins A, A2, F and S in the context of the hemoglobinopathies HbS and α-thalassemia in Kenyan infants.

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Journal:  Haematologica       Date:  2018-11-22       Impact factor: 9.941

3.  Cation-exchange high-performance liquid chromatography for variant hemoglobins and HbF/A2: What must hematopathologists know about methodology?

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Journal:  World J Methodol       Date:  2016-03-26

4.  Two new beta-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention.

Authors:  Marion Phylipsen; Antonio Amato; Maria Pia Cappabianca; Jan Traeger-Synodinos; Emmanuel Kanavakis; Nazli Basak; Renzo Galanello; Teresa Tuveri; Giovanni Ivaldi; Cornelis L Harteveld; Piero C Giordano
Journal:  Haematologica       Date:  2009-09       Impact factor: 9.941

5.  Evaluation of four hemoglobin separation analyzers for hemoglobinopathy diagnosis.

Authors:  Simon Degandt; Rémy Coens; Barbara Cauwelier; Helena Devos; Michel Langlois; Jan Emmerechts
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6.  Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA2 Levels on Capillary Electrophoresis.

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Review 7.  Alpha-thalassaemia.

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8.  Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major.

Authors:  Cornelis L Harteveld; Chiara Refaldi; Antonino Giambona; Claudia A L Ruivenkamp; Mariëtte J V Hoffer; Jeroen Pijpe; Peter De Knijff; Caterina Borgna-Pignatti; Aurelio Maggio; Maria D Cappellini; Piero C Giordano
Journal:  Haematologica       Date:  2012-09-14       Impact factor: 9.941

9.  Mutations in MED12 cause X-linked Ohdo syndrome.

Authors:  Anneke T Vulto-van Silfhout; Bert B A de Vries; Bregje W M van Bon; Alexander Hoischen; Martina Ruiterkamp-Versteeg; Christian Gilissen; Fangjian Gao; Marloes van Zwam; Cornelis L Harteveld; Anthonie J van Essen; Ben C J Hamel; Tjitske Kleefstra; Michèl A A P Willemsen; Helger G Yntema; Hans van Bokhoven; Han G Brunner; Thomas G Boyer; Arjan P M de Brouwer
Journal:  Am J Hum Genet       Date:  2013-02-07       Impact factor: 11.025

10.  HbE Level and Red Cell Parameters in Heterozygous HbE With and Without α0-Thalassemia Trait.

Authors:  Sakorn Pornprasert; Monthathip Tookjai; Manoo Punyamung; Panida Pongpunyayuen
Journal:  Indian J Hematol Blood Transfus       Date:  2018-03-12       Impact factor: 0.900

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