Publications by authors named "Sandra Arkesteijn"

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Alpha Thalassemia Screening in Multiethnic Population in Northern Europe Using Hb Bart's Immunochromatographic Test.
Nik Fatma Fairuz Nik Mohd Hasan, Sandra J G Arkesteijn, Jeanet Ter Huurne, Maaike Verschuren, Sharda Bhagwandien-Bisoen

Int J Lab Hematol· April 2025

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Loss-of-Function Variants in as Modifying Factors in Beta-Thalassemia.
Cornelis L Harteveld, Ahlem Achour, Nik Fatma Fairuz Mohd Hasan, Jelmer Legebeke, Sandra J G Arkesteijn

Int J Mol Sci· August 2024

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The hemoglobinopathies, molecular disease mechanisms and diagnostics.
Cornelis L Harteveld, Ahlem Achour, Sandra J G Arkesteijn, Jeanet Ter Huurne, Maaike Verschuren

Int J Lab Hematol· September 2022

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A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H.
Ahlem Achour, Tamara Koopmann, Rob Castel, Gijs W E Santen, Nicolette den Hollander, Sandra G J Arkesteijn

Blood· October 2020

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Adult-onset beta-thalassaemia intermedia caused by a 5-Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β-globin locus.
Joanne Traeger-Synodinos, Cathy A J Bosch, Christina Vrettou, Lena Maragoudaki, Janos Apostolidis, Sandra G J Arkesteijn

Br J Haematol· September 2019

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The first report of hemoglobin E in combination with the highly unstable alpha-globin variant Hb Adana: The importance of molecular confirmation.
Ahlem Achour, Elke de Grouw, Femke van Erp, Sandra Arkesteijn, Rianne Schaap

Int J Lab Hematol· June 2019

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Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance.
Runa M Grimholt, Cornelis L Harteveld, Sandra G J Arkesteijn, Bente Fjeld, Olav Klingenberg

Hemoglobin· March 2018

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Towards a prevention program for β-thalassemia. The molecular spectrum in East Java, Indonesia.
Pratika Yuhyi Hernanda, Luluk Tursilowati, Sandra G J Arkesteijn, I Dewa Gede Ugrasena, Marian C Shanty Larasati

Hemoglobin· June 2012

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Hb Boskoop [HBA2c.112C>T p.Pro38Ser]: a new α2 chain variant observed in a Morrocan family.
Florens G A Versteegh, Sandra G J Arkesteijn, Margreet Bakker-Verweij, Karola Haanappel, Peter van Delft

Hemoglobin· August 2011

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Hb St. Truiden [α68(E17)Asn→His] and Hb Westeinde [α125(H8)Leu→Gln]: two new abnormalities of the α2-globin gene.
Judith O Kaufmann, Marion Phylipsen, Catherine Neven, Wim Huisman, Peter van Delft, Sandra G J Arkesteijn

Hemoglobin· March 2011

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New and known β-thalassemia determinants masked by known and new δ gene defects [Hb A(2)-Ramallah or δ6(A3)Glu→Gln, GAG>>CAG].
Marion Phylipsen, Cornelis L Harteveld, Menno de Metz, Monica V E Gallivan, Sandra G J Arkesteijn

Hemoglobin· March 2011

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Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening.
Piero C Giordano, Marjon H Cnossen, Annemarie M S Joosten, Cees A M Jansen, Tineke E Hakvoort, Sandra G J Arkesteijn

Hemoglobin· October 2010

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A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW)).
Marion Phylipsen, Ingrid P Vogelaar, Rianne A C Schaap, Sandra G J Arkesteijn, George L Boxma

Blood Cells Mol Dis· August 2010

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Hb Den Haag [beta45(CD4)Phe-->Tyr]. A new hemoglobin variant observed during early pregnancy diagnostics.
Judith O Kaufmann, Cornelis L Harteveld, Margreet Bakker-Verweij, Sandra G J Arkesteijn, Peter van Delft

Hemoglobin· May 2010

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alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha2-globin gene.
Cornelis L Harteveld, Wytze P Oosterhuis, Christian H H Schoenmakers, Hardjawardhama Ananta, Snjezana Kos, Sandra G J Arkesteijn

Eur J Haematol· April 2010

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Two new alpha1-globin gene point mutations: Hb Nedlands (HBA1:c.86C>T) [alpha28(B9)Ala-->Val] and Hb Queens Park (HBA1:c.98T>A) [alpha32(B13)Met-->Lys].
Marion Phylipsen, John F Prior, Erna Lim, Neela Lingam, Jill Finlayson, Sandra G J Arkesteijn

Hemoglobin· January 2010

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A brief review on newborn screening methods for hemoglobinopathies and preliminary results selecting beta thalassemia carriers at birth by quantitative estimation of the HbA fraction.
Eleni Mantikou, Sandra G Arkesteijn, Jaqueline M Beckhoven van, Jean-Louis Kerkhoffs, Cornelis L Harteveld

Clin Biochem· December 2009

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Hb Lepore-Leiden: a new delta/beta rearrangement associated with a beta-thalassemia minor phenotype.
Cornelis L Harteveld, Pierre W Wijermans, Sandra G J Arkesteijn, Peter Van Delft, Jean-Louis Kerkhoffs

Hemoglobin· July 2009

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The first case of Hb Groene Hart [alpha119(H2)Pro-->Ser, CCT-->TCT (alpha1)] homozygosity confirms that a thalassemia phenotype is associated with this abnormal hemoglobin variant.
Piero C Giordano, Sonja Zweegman, Nicole Akkermans, Sandra G J Arkesteijn, Peter van Delft

Hemoglobin· July 2007

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Hb Geldrop St. Anna [beta94(FG1)Asp --> Tyr]: a new hemoglobin variant observed in a diabetic patient.
Cornelis L Harteveld, Marc H M Thelen, Johannes J A Rutten, Jolanda Leuverman, Nicole Akkermans, Sandra Arkesteijn

Hemoglobin· September 2005

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Hb zoeterwoude [beta23(B5)Val-->Ala)]: a new beta-globin variant found in association with erythrocytosis.
Cornelis L Harteveld, J H Marc Groeneveld, Bastiaan van Dam, Peter Van Delft, Nicole Akkerman, Sandra Arkesteijn

Hemoglobin· August 2005

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Hb Buffalo [alpha89(FG1)His-->Gln (alpha1)], observed solely and in the presence of an Hb S [beta6(A3)Glu-->Val] heterozygosity.
Cornelis L Harteveld, Peter Van Delft, Nicole Akkermans, Sandra Arkesteijn, Irene H Van Rooijen-Nijdam

Hemoglobin· August 2004

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