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  1. Article ; Online: Hemoglobin A2-Leuven (α2δ2 143(H21) His>Asp): a novel delta-chain variant potentially interfering in hemoglobin A1c measurement using cation exchange HPLC.

    Kieffer, Davy M J / Harteveld, Cornelis L / Lee, Da Hae / Schiemsky, Toon / Desmet, Koenraad J O / Gillard, Pieter

    Clinical chemistry and laboratory medicine

    2016  Volume 54, Issue 5, Page(s) e161–3

    MeSH term(s) Adult ; Aspartic Acid/genetics ; Cations/chemistry ; Chromatography, High Pressure Liquid ; Chromatography, Ion Exchange ; Diabetes Mellitus, Type 2/diagnosis ; Diabetes Mellitus, Type 2/genetics ; Female ; Genetic Variation/genetics ; Glycated Hemoglobin A/analysis ; Glycated Hemoglobin A/genetics ; Hematologic Tests ; Hemoglobin A2/genetics ; Histidine/genetics ; Humans
    Chemical Substances Cations ; Glycated Hemoglobin A ; hemoglobin A1c protein, human ; Aspartic Acid (30KYC7MIAI) ; Histidine (4QD397987E) ; Hemoglobin A2 (9034-53-1)
    Language English
    Publishing date 2016
    Publishing country Germany
    Document type Case Reports ; Letter
    ZDB-ID 1418007-8
    ISSN 1437-4331 ; 1434-6621 ; 1437-8523
    ISSN (online) 1437-4331
    ISSN 1434-6621 ; 1437-8523
    DOI 10.1515/cclm-2015-0718
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 121: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Article ; Online: Evaluation of the V8 E-Class, a Novel Automated Capillary Isoelectric Focusing Instrument for Hemoglobinopathy Screening.

    Schiemsky, Toon / Brusselmans, Caroline / Nackers, Elke / Vermeersch, Pieter / Poesen, Koen / Desmet, Koen J O / Boeckx, Nancy / Kieffer, Davy M J

    American journal of clinical pathology

    2016  Volume 146, Issue 3, Page(s) 361–368

    Abstract: Objectives: We evaluated the performance of a novel capillary isoelectric focusing (CIEF) application for hemoglobinopathy screening on the recently introduced V8 E-Class platform.: Methods: Analytical performance of the V8 E-Class was evaluated and ... ...

    Abstract Objectives: We evaluated the performance of a novel capillary isoelectric focusing (CIEF) application for hemoglobinopathy screening on the recently introduced V8 E-Class platform.
    Methods: Analytical performance of the V8 E-Class was evaluated and included assessment of hemoglobin A2 (HbA2) imprecision; linearity for HbA2, fetal hemoglobin (HbF), and sickle hemoglobin (HbS); and carryover for HbS. Furthermore, a method comparison with the Minicap Flex Piercing (Sebia, Lisses, France), the Variant Classic (Bio-Rad Laboratories, Hercules, CA), and the G8 (Tosoh Europe, Amsterdam, the Netherlands) was done to assess analytical and clinical concordance.
    Results: Total HbA2 imprecision was 3.26% and 3.14% for normal and elevated HbA2 controls and 5.16% and 3.58% for a normal and a heterozygous HbS patient sample, respectively. HbA2, HbF, and HbS showed acceptable linearity, and no carryover was observed. The method comparison showed good analytical concordance (r > 0.95) except for a homozygous HbS subset (r = 0.532-0.704). A comparable phenomenon was seen for the clinical concordance with good agreement in samples without variants (weighted κ > 0.80) but poorer agreement in HbS samples (κ < 0.30).
    Conclusions: Good analytical performance was demonstrated for this novel CIEF application for hemoglobinopathy screening. Method comparison showed generally good correlation but highlights the need for standardization. Finally, software optimization could further add to its use for routine hemoglobinopathy screening.
    MeSH term(s) Electrophoresis, Capillary/instrumentation ; Electrophoresis, Capillary/methods ; Fetal Hemoglobin/analysis ; Hemoglobin A2/analysis ; Hemoglobin, Sickle/analysis ; Hemoglobinopathies/diagnosis ; Humans ; Isoelectric Focusing/instrumentation ; Isoelectric Focusing/methods ; Reproducibility of Results
    Chemical Substances Hemoglobin, Sickle ; Hemoglobin A2 (9034-53-1) ; Fetal Hemoglobin (9034-63-3)
    Language English
    Publishing date 2016-09
    Publishing country England
    Document type Evaluation Studies ; Journal Article
    ZDB-ID 2944-0
    ISSN 1943-7722 ; 0002-9173
    ISSN (online) 1943-7722
    ISSN 0002-9173
    DOI 10.1093/ajcp/aqw124
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Ud II Zs.91: Show issues Location:
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  3. Article ; Online: A Mosaic Expression of a Hb J-Amiens (HBB: c.54G > T; p.Lys18Asn) and its Interference with Hb A1c Analysis.

    Schiemsky, Toon / Van Hoovels, Lieve / Desmet, Koen J O / Phylipsen, Marion / Harteveld, Cornelis L / Kieffer, Davy M J

    Hemoglobin

    2015  Volume 39, Issue 6, Page(s) 435–437

    Abstract: We report the case of a 56-year-old Caucasian woman in whom hemoglobinopathy screening was triggered following an aberrant Hb A1c analysis. Preliminary diagnosis of the hemoglobin (Hb) variant was obtained through cation exchange high performance liquid ... ...

    Abstract We report the case of a 56-year-old Caucasian woman in whom hemoglobinopathy screening was triggered following an aberrant Hb A1c analysis. Preliminary diagnosis of the hemoglobin (Hb) variant was obtained through cation exchange high performance liquid chromatography (HPLC) and gel electrophoresis. DNA analysis confirmed the presence of Hb J-Amiens [β17(A14)Lys→Asn; HBB: c.[54G > C or 54G > T)]. However, an unbalanced ratio between wild type and mutant signal after direct sequencing and a lower than expected percentage of this Hb variant led to the suggestion of a mosaic expression. Furthermore, different methods [capillary zone electrophoresis (CZE), cation exchange HPLC and boronate affinity] were tested to study the possible interference of this variant with Hb A1c measurements. These investigations showed a clinically relevant difference between the methods tested. Hb A1c analysis may lead to the discovery of new Hb variants or mosaicism for previously described Hb variants. This may have genetic consequences for the offspring of carriers and brings about the question of partner testing.
    MeSH term(s) Amino Acid Substitution ; Codon ; DNA Mutational Analysis ; Erythrocyte Indices ; Female ; Gene Expression ; Genotype ; Glycated Hemoglobin A/genetics ; Glycated Hemoglobin A/metabolism ; Hemoglobin J/genetics ; Hemoglobin J/metabolism ; Hemoglobinopathies/diagnosis ; Hemoglobinopathies/genetics ; Humans ; Middle Aged ; Mutation ; Phenotype ; beta-Globins/genetics
    Chemical Substances Codon ; Glycated Hemoglobin A ; beta-Globins ; Hemoglobin J (58128-48-6) ; hemoglobin J-Amiens (73989-36-3)
    Language English
    Publishing date 2015
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 750615-6
    ISSN 1532-432X ; 0363-0269
    ISSN (online) 1532-432X
    ISSN 0363-0269
    DOI 10.3109/03630269.2015.1079218
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1345: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

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