Kees Harteveld
- Name
- Dr.ing. C.L. Harteveld
- Telephone
- +31 71 526 9817
- c.l.harteveld@lumc.nl
- Faculteit Geneeskunde
- Divisie 4
- Humane Genetica
- Minaidou, A.; Tamana, S.; Stephanou, C.; Xenophontos, M.; Harteveld, C.L.; Bento, C.; Kleanthous, M. & Kountouris, P. (2022), A novel tool for the analysis and detection of copy number variants associated with haemoglobinopathies, International Journal of Molecular Sciences 23(24).
- Tamana, S.; Xenophontos, M.; Minaidou, A.; Stephanou, C.; Harteveld, C.L.; Bento, C.; Traeger-Synodinos, J.; Fylaktou, I.; Yasin, N.M.; Hamid, F.S.A.; Esa, E.; Halim-Fikri, H.; Zilfalil, B.; Kakouri, A.C.; Kleanthous, M. & Kountouris, P. (2022), Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies, eLife 11.
- Harteveld, C.L.; Achour, A.; Arkesteijn, S.J.G.; Huurne, J. ter; Verschuren, M.; Bhagwandien-Bisoen, S.; Schaap, R.; Vijfhuizen, L.; Idrissi, H. el & Koopmann, T.T. (2022), The hemoglobinopathies, molecular disease mechanisms and diagnostics, International Journal of Laboratory Hematology 44: 28-36.
- Vliet, M.E. van; Kerkhoffs, J.L.H.; Harteveld, C.L. & Houwink, E.J.F. (2023), Hemoglobinopathy screening in primary care in the Netherlands: exploring the problems and needs of patients and general practitioners, European Journal of Human Genetics 31(4): 417-423.
- Vliet, M.E. van; Kerkhoffs, J.L.H.; Harteveld, C.L. & Houwink, E.J.F. (2022), Hemoglobinopathy screening in primary care in the Netherlands, European Journal of Human Genetics 31.
- Vliet, M.E. van; Kerkhoffs, J.L.H.; Harteveld, C.L. & Houwink, E.J.F. (2022), Hemoglobinopathy prevention in primary care: a reflection of underdetection and difficulties with accessibility of medical care, a quantitative study, European Journal of Human Genetics 30(7): 790-794.
- Vliet, M.E. van; Kerkhoffs, J.L.H.; Harteveld, C.L. & Houwink, E.J.F. (2022), Hemoglobinopathy prevention in primary care, European Journal of Human Genetics 30(7): 790-794.
- Kountouris, P.; Stephanou, C.; Lederer, C.W.; Traeger-Synodinos, J.; Bento, C.; Harteveld, C.L.; Fylaktou, E.; Koopmann, T.T.; Halim-Fikri, H.; Michailidou, K.; Nfonsam, L.E.; Waye, J.S.; Zilfalil, B.A.; Kleanthous, M. & ClinGen Hemoglobinopathy Variant C (2022), Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel, Human Mutation: Variation, Informatics and Disease 43(8): 1089-1096.
- Kountouris, P.; Stephanou, C.; Lederer, C.W.; Traeger-Synodinos, J.; Bento, C.; Harteveld, C.L.; Fylaktou, E.; Koopmann, T.T.; Halim-Fikri, H.; Michailidou, K.; Nfonsam, L.E.; Waye, J.S.; Zilfalil, B.A.; Kleanthous, M. & ClinGen Hemoglobinopathy Variant C (2021), Adapting the ACMG/AMP variant classification framework, Human Mutation: Variation, Informatics and Disease.
- Iolascon, A.; Bianchi, P.; Andolfo, I.; Russo, R.; Barcellini, W.; Fermo, E.; Toldi, G.; Ghirardello, S.; Rees, D.; Wijk, R. van; Kattamis, A.; Gallagher, P.G.; Roy, N.; Taher, A.; Mohty, R.; Kulozik, A.; Franceschi, L. de; Gambale, A.; Montalembert, M. de; Forni, G.L.; Harteveld, C.L.; Prchal, J. & SWG Red Cell & Iron EHA & EuroBloo (2021), Recommendations for diagnosis and treatment of methemoglobinemia, American Journal of Hematology 96(12): 1666-1678.
- Iacomelli, I.; Barberio, G.; Pucci, P.; Monaco, V.; Maffei, M.; Mogni, M.; Curcio, C.; Maoggi, S.; Giulietti, C.; Harteveld, C.L. & Ivaldi, G. (2021), Hemoglobin Yamagata [beta 132(H10)Lys -> Asn; (HBB: c.399A > T)]: a mosaic to be put together, Clinical Chemistry and Laboratory Medicine 59(10): 1670-1679.
- Achour, A.; Koopmann, T.T.; Baas, F. & Harteveld, C.L. (2021), The evolving role of next-generation sequencing in screening and diagnosis of hemoglobinopathies, Frontiers in Physiology 12.
- Hottentot, Q.P.; Meijer, E. de; Buermans, H.P.J.; White, S.J. & Harteveld, C.L. (2021), Breakpoint characterization of a rare alpha(0)-thalassemia deletion using targeted locus amplification on genomic DNA, International Journal of Laboratory Hematology 43(6): 1628-1634.
- Rizzuto, V.; Koopmann, T.T.; Blanco-Alvarez, A.; Tazon-Vega, B.; Idrizovic, A.; Heredia, C.D. de; Orbe, R. del; Pampliega, M.V.; Velasco, P.; Beneitez, D.; Santen, G.W.E.; Waisfisz, Q.; Elting, M.; Smiers, F.J.W.; Pagter, A.J. de; Kerkhoffs, J.L.H.; Harteveld, C.L. & Manu-Pereira, M.D. (2021), Usefulness of NGS for diagnosis of dominant beta-thalassemia and unstable hemoglobinopathies in five clinical cases, Frontiers in Physiology 12.
- Hidde A Zittersteijn 1, Cornelis L Harteveld 2, Stefanie Klaver-Flores 3, Arjan C Lankester 4, Rob C Hoeben 1, Frank J T Staal 3 & Manuel A F V Gonçalves 1 (2021), A small key for a heavy door, Frontiers in Genetics 2.
- Badat, M.; Davies, J.O.J.; Fisher, C.A.; Downes, D.J.; Rose, A.; Glenthoj, A.B.; Beers, E.J. van; Harteveld, C.L. & Higgs, D.R. (2021), A remarkable case of HbH disease illustrates the relative contributions of the alpha-globin enhancers to gene expression.
- Mosca, A.; Paleari, R. & Harteveld, C.L. (2021), A roadmap for the standardization of hemoglobin A(2), Clinica Chimica Acta 512: 185-190.
- Gottgens, E.L.; Baks, K.; Harteveld, C.L.; Goossens, K. & Gammeren, A.J. van (2021), Cyanosis, hemolysis, decreased HbA1c and abnormal co-oximetry in a patient with hemoglobin M Saskatoon [HBB:c.190C > T p.His64Tyr], Hematology 26(1): 914-918.
- Wild, B.J.; Chohan, D.K.; Harteveld, C.L. & Salle, B. de la (2020), Further evaluation of the world health organization international reference reagent for Haemoglobin A(2) measurement, International Journal of Laboratory Hematology.
- Saller, E.; Knijnenburg, J.; Harteveld, C.L. & Dutly, F. (2020), A Woman with Missing Hb A(2) Due to a Novel (epsilon gamma)delta beta(0)-Thalassemia and a Novel delta-Globin Variant Hb A(2)-Gebenstorf (HBD: c.209G > A), Hemoglobin 44(3): 214-217.
- Babbs, C.; Brown, J.; Horsley, S.W.; Slater, J.; Maifoshie, E.; Kumar, S.; Ooijevaar, P.; Kriek, M.; Dixon-McIver, A.; Harteveld, C.L.; Traeger-Synodinos, J.; Wilkie, A.O.M.; Higgs, D.R. & Buckle, V.J. (2020), ATR-16 syndrome, Journal of Medical Genetics 57(6): 414-421.
- Gammeren, A.J. van; Pelkmans, L.; Endschot, C.C.W. van; Roelofsen-de Beer, R.J.A.C. & Harteveld, C.L. (2020), An Unusual Compound Heterozygosity for Hb O-Arab (HBB: c.364G>A) and Hb D-Los Angeles (HBB: c.364G>C), Hemoglobin 44(1): 61-63.
- Adewoyin, A.; Ogbenna, A.A. & Harteveld, C.L. (2019), Laboratory quality systems in clinical laboratory practice in Lagos, Nigeria (West Africa): Associated problems and prospects.
- Traeger-Synodinos, J.; Bosch, C.A.J.; Vrettou, C.; Maragoudaki, L.; Apostolidis, J.; Kanavakis, E.; Kattamis, C.; Arkesteijn, S.G.J.; Hoffer, M.J.V.; Ruivenkamp, C.A.L. & Harteveld, C.L. (2019), Adult-onset beta-thalassaemia intermedia caused by a 5-Mb somatic clonal segmental deletion in haemopoietic stem cells involving the beta-globin locus.
- Achour, A.; Grouw, E. de; Erp, F. van; Arkesteijn, S.; Schaap, R.; Huurne, J. ter; Bisoen, S.; Verschuren, M. & Harteveld, C.L. (2019), The first report of hemoglobin E in combination with the highly unstable alpha-globin variant Hb Adana: The importance of molecular confirmation.
- Salle, B. de la; Stephens, A.D.; Wild, B.J.; Harteveld, C.L. & Hyde, K. (2019), Evaluation of the suitability of the World Health Organization International Reference Reagent for Hb A(2) quantitation (89/666) for continued use, International Journal of Laboratory Hematology 41(2): 262-270.
- Grimholt, R.M.; Harteveld, C.L.; Arkesteijn, S.G.J.; Fjeld, B. & Klingenberg, O. (2018), Characterization of Two Deep Intronic Variants on the -Globin Gene with Inconsistent Interpretations of Clinical Significance, Hemoglobin 42(2): 126-128.
- Harteveld, C.L. (2018), Diagnosis of haemoglobinopathies: New scientific advances, THALASSEMIA REPORTS 8(1): 7-8.
- Pondman, K.M.; Brinkman, J.W.; Straaten, H.M. van der; Stroobants, A.K. & Harteveld, C.L. (2018), Hb Nouakchott [114(GH2)ProLeu; HBA1: c.344C > T], A Second and Third Case Described in Two Unrelated Dutch Families, Hemoglobin 42(1): 51-53.
- Farashi, S. & Harteveld, C.L. (2018), Molecular basis of alpha-thalassemia, Blood Cells, Molecules and Diseases 70: 43-53.
- Paleari, R.; Ceriotti, F.; Harteveld, C.L.; Strollo, M.; Bakker-Verweij, G.; Huurne, J. ter; Bisoen, S. & Mosca, A. (2018), Calibration by commutable control materials is able to reduce inter-method differences of current high-performance methods for HbA(2), Clinica Chimica Acta 477: 60-65.
- Clark, B.; Shooter, C.; Smith, F.; Brawand, D.; Steedman, L.; Oakley, M.; Rushton, P.; Rooks, H.; Wang, X.D.; Drousiotou, A.; Kyrri, A.; Hadjigavriel, M.; Will, A.; Fisher, C.; Higgs, D.R.; Phylipsen, M.; Harteveld, C.; Kleanthous, M. & Thein, S.L. (2018), Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis, British Journal of Haematology 180(1): 160-164.
- Traeger-Synodinos, J. & Harteveld, C.L. (2017), Preconception carrier screening and prenatal diagnosis in thalassemia and hemoglobinopathies: challenges and future perspectives, Expert Review of Molecular Diagnostics 17(3): 281-291.
- Harteveld, C.; Daniel, Y.; Bakker-Verweij, G. & Ivaldi, G. (2017), EVALUATION OF THREE AUTOMATIC DEVICES FOR HEMOGLOBINOPATHY DIAGNOSTICS IN MULTI-ETHNIC POPULATIONS, Haematologica 102: 868-868.
- Oosterbos, J.; Claerhout, H.; Harteveld, C.L.; Lierman, E. & Kieffer, D. (2017), PERFORMANCE OF THE ALPHA-GLOBIN STRIPASSAY (R) AND MLPA (R) FOR THE DIAGNOSIS OF ALPHA-THALASSAEMIA, Haematologica 102: 869-869.
- Natiq, A.; Lysy, P.A.; Gillemans, N.; Schaap, R.; Sefiani, A.; Amzazi, S.; El-Alaoui, S.C.; Cantu, I.; Banjanin, B.; Lom, K. van; Harteveld, C.L. & Philipsen, S. (2017), Hereditary persistence of fetal hemoglobin in two patients with KLF1 haploinsufficiency due to 19p13.2-p13.12/13 deletion, American Journal of Hematology 92(1): E2-E3.
- Peeters, B.; Brandt, I.; Desmet, K.; Harteveld, C.L. & Kieffer, D. (2016), Hb Melusine and Hb Athens-Georgia: potentially underreported in the Belgian population? Four cases demonstrating the lack of detection using common CE-HPLC methods either for glycated hemoglobin (HbA(1C)) analysis or Hb variant screening, Acta Clinica Belgica 71(6): 458-461.
- De-La-Cruz-Salcedo, E.I.; Ibarra, B.; Rizo-De-La-Torre, L.C.; Sanchez-Lopez, J.Y.; Gonzalez-Mercado, A.; Harteveld, C.L. & Perea-Diaz, F.J. (2016), Molecular analysis of complex cases of alpha- and beta-thalassemia in Mexican mestizo patients with microcytosis and hypochromia reveals two novel alpha(0)-thalassemia deletions --(Mex1) and --(Mex2), International Journal of Laboratory Hematology 38(5): 535-542.
- Harteveld, C.L.; Pissard, S.; Korver, A.M.H.; Riou, J.; Legac, E.; Lansbergen, G.; Pardijs, I.L.; Giordano, P.C. & Versteegh, F.G.A. (2016), Hb Olivet (HBA1: C.40G > A; p.Ala14Thr), a Novel Silent Hemoglobin Variant in Two Families of Distinct Origin, Hemoglobin 40(5): 349-352.
- Kieffer, D.M.J.; Harteveld, C.L.; Lee, D.H.; Schiemsky, T.; Desmet, K.J.O. & Gillard, P. (2016), Hemoglobin A(2)-Leuven (alpha(2)delta(2) 143(H21) His > Asp): a novel delta-chain variant potentially interfering in hemoglobin A(1C) measurement using cation exchange HPLC, Clinical Chemistry and Laboratory Medicine 54(5): E161-E163.
- Hassan, S.M.; Harteveld, C.L.; Bakker, E. & Giordano, P.C. (2015), Broader Spectrum of beta-Thalassemia Mutations in Oman: Regional Distribution and Comparison with Neighboring Countries, Hemoglobin 39(2): 107-110.
- Hassan, S.M.; Harteveld, C.L.; Bakker, E. & Giordano, P.C. (2015), Hb Lansing (HBA2: c.264C > G) and a New beta Promoter Transversion [-52 (G > T)]: An Attempt to Define the Phenotype of Two Mutations Found in the Omani Population, Hemoglobin 39(2): 111-114.
- Oever, J.M.E. van den; Minderhout, I.J.H.M. van; Harteveld, C.L.; Hollander, N.S. den; Bakker, E.; Stoep, N. van der & Boon, E.M.J. (2015), A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma, Journal of Molecular Diagnostics 17(5): 590-596.
- Traeger-Synodinos, J.; Harteveld, C.L.; Old, J.M.; Petrou, M.; Galanello, R.; Giordano, P.; Angastioniotis, M.; Salle, B. de la; Henderson, S.; May, A. & EMQN Haemoglobinopathies Best (2015), EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies, European Journal of Human Genetics 23(4): 426-437.
- Giordano, P.C.; Harteveld, C.L. & Bakker, E. (2014), Genetic Epidemiology and Preventive Healthcare in Multiethnic Societies: The Hemoglobinopathies (vol 11, pg 6136, 2014), International Journal of Environmental Research and Public Health 11(12): 12367-12367.
- Hassan, S.M.; Harteveld, C.L.; Bakker, E. & Giordano, P.C. (2014), Known and New delta-Globin Gene Mutations and Other Factors Influencing Hb A(2) Measurement in the Omani Population, Hemoglobin 38(4): 299-302.
- Hassan, S.M.; Harteveld, C.L.; Bakker, E. & Giordano, P.C. (2014), Molecular Spectrum of alpha-Globin Gene Defects in the Omani Population, Hemoglobin 38(6): 422-426.
- Hassan, S.M.; Vossen, R.H.A.M.; Chessa, R.; Dunnen, J.T. den; Bakker, E.; Giordano, P. & Harteveld, C.L. (2014), Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA Ion Torrent PGM technology, Blood Cells, Molecules and Diseases 53(3): 133-137.
- Giordano, P.C.; Harteveld, C.L. & Bakker, E. (2014), Genetic Epidemiology and Preventive Healthcare in Multiethnic Societies: The Hemoglobinopathies, International Journal of Environmental Research and Public Health 11(6): 6136-6146.
- Hassan, S.; Bakker, E.; Harteveld, C. & Giordano, P. (2014), PRIMARY PREVENTION OF HEMOGLOBINOPATHIES BY PRENATAL DIAGNOSIS AND SELECTIVE PREGNANCY TERMINATION IN A MUSLIM COUNTRY: OMAN, International Journal of Laboratory Hematology 36: 68-68.
- Harteveld, C.L.; Refaldi, C.; Giambona, A.; Ruivenkamp, C.A.L.; Hoffer, M.J.V.; Pijpe, J.; Knijff, P. de; Borgna-Pignatti, C.; Maggio, A.; Cappellini, M.D. & Giordano, P.C. (2013), Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset beta-thalassemia major, Haematologica 98(5): 691-695.
- Harteveld, C.L.; Refaldi, C.; Giambona, A.; Ruivenkamp, C.A.L.; Hoffer, M.J.V.; Pijpe, J.; Knijff, P. de; Borgna-Pignatti, C.; Maggio, A.; Cappellini, M.D. & Giordano, P.C. (2012), Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major.
- Phylipsen, M.; Yamsri, S.; Treffers, E.E.; Jansen, D.T.S.L.; Kanhai, W.A.; Boon, E.M.J.; Giordano, P.C.; Fucharoen, S.; Bakker, E. & Harteveld, C.L. (2012), Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis, Prenatal Diagnosis 32(6): 578-587.
- Phylipsen, M.; Chaibunruang, A.; Vogelaar, I.P.; Balak, J.R.A.; Schaap, R.A.C.; Ariyurek, Y.; Fucharoen, S.; Dunnen, J.T. den; Giordano, P.C.; Bakker, E. & Harteveld, C.L. (2012), Fine-Tiling Array CGH to Improve Diagnostics for alpha- and beta-Thalassemia Rearrangements, Human Mutation: Variation, Informatics and Disease 33(1): 272-280.
- Phylipsen, M.; Chaibunruang, A.; Vogelaar, I.P.; Balak, J.R.A.; Schaap, R.A.C.; Ariyurek, Y.; Fucharoen, S.; Dunnen, J.T. den; Giordano, P.C.; Bakker, E. & Harteveld, C.L. (2012), Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements., Human Mutation 33(1): 272-80.
- Versteegh, F.G.A.; Arkesteijn, S.G.J.; Bakker-Verweij, M.; Haanappel, K.; Delft, P. van; Phylipsen, M.; Kaufmann, J.O.; Kok, P.J.M.J.; Lansbergen, G.W.A.; Giordano, P.C. & Harteveld, C.L. (2011), Hb BOSKOOP [HBA2c.112C > T p.Pro38Ser]: A NEW alpha 2 CHAIN VARIANT OBSERVED IN A MORROCAN FAMILY, Hemoglobin 35(2): 97-102.
- Giordano PC, Huisman W & Harteveld CL (2011), Iron depletion: an ameliorating factor for sickle cell disease?, ISRN Hematology 2011: 473152.
- Phylipsen M, Traeger-Synodinos J, van der Kraan M, van Delft P, Bakker G, Geerts M, Kanavakis E, Stamoulakatou A, Karagiorga M, Giordano PC & Harteveld CL (2011), A novel α(0) -thalassemia deletion in a Greek patient with HbH disease and β-thalassemia trait., European Journal of Haematology.
- Giardine, B.; Borg, J.; Higgs, D.R.; Peterson, K.R.; Philipsen, S.; Maglott, D.; Singleton, B.K.; Anstee, D.J.; Basak, A.N.; Clark, B.; Costa, F.C.; Faustino, P.; Fedosyuk, H.; Felice, A.E.; Francina, A.; Galanello, R.; Gallivan, M.V.E.; Georgitsi, M.; Gibbons, R.J.; Giordano, P.C.; Harteveld, C.L.; Hoyer, J.D.; Jarvis, M.; Joly, P.; Kanavakis, E.; Kollia, P.; Menzel, S.; Miller, W.; Moradkhani, K.; Old, J.; Papachatzopoulou, A.; Papadakis, M.N.; Papadopoulos, P.; Pavlovic, S.; Perseu, L.; Radmilovic, M.; Riemer, C.; Satta, S.; Schrijver, I.; Stojiljkovic, M.; Thein, S.L.; Traeger-Synodinos, J.; Tully, R.; Wada, T.; Waye, J.S.; Wiemann, C.; Zukic, B.; Chui, D.H.K.; Wajcman, H.; Hardison, R.C. & Patrinos, G.P. (2011), Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach, Nature Genetics 43(4): 295-302.
- Phylipsen, M.; Gallivan, M.V.E.; Arkesteijn, S.G.J.; Harteveld, C.L. & Giordano, P.C. (2011), Occurrence of common and rare delta-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of delta-globin gene defects in beta-thalassemia diagnostics, International Journal of Laboratory Hematology 33(1): 85-91.
- Phylipsen, M.; Gallivan, M.V.E.; Arkesteijn, S.G.J.; Harteveld, C.L. & Giordano, P.C. (2011), Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics., International Journal of Laboratory Hematology 33(1): 85-91.
- Kaufmann, J.O.; Harteveld, C.L.; Bakker-Verweij, M.; Arkesteijn, S.G.J.; Delft, P. van; Haak, H.; Wijermans, P.W.; Kerkhoffs, J.L. & Giordano, P.C. (2010), Hb Den Haag [beta 45(CD4)Phe -> Tyr]. A New Hemoglobin Variant Observed During Early Pregnancy Diagnostics, Hemoglobin 34(1): 37-44.
- Mantikou, E.; Harteveld, C.L. & Giordano, P.C. (2010), Newborn screening for hemoglobinopathies using capillary electrophoresis technology: Testing the Capillarys (R) Neonat Fast Hb device, Clinical Biochemistry 43(16-17): 1345-1350.
- Mantikou E, Arkesteijn SG, Van JMB, Kerkhoffs JL, Harteveld CL & Giordano PC (2009), 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, Clinical Biochemistry 42(18): 1780-1785.
- Giordano PC, Bakker-Verwij M & Harteveld CL (2009), Frequency of -Globin Gene Triplications and Their Interaction with -Thalassemia Mutations, Hemoglobin 33(2): 124-131.
- Yavarian M, Karimi M, Paran F, Neven C, Harteveld CL & Giordano PC (2009), MULTI CENTRIC ORIGIN OF Hb D-PUNJAB [beta 121(GH4)Glu -> Gln, GAA > CAA], Hemoglobin 33(6): 399-405.
- Van Delft P, Lenters E, Bakker-Verweij M, de Korte M, Baylan U, Harteveld CL & Giordano PC (2009), Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi-ethnic populations, International Journal of Laboratory Hematology 31(5): 484-495.
- Phylipsen M, Amato A, Cappabianca MP, Traeger-Synodinos J, Kanavakis E, Basak N, Galanello R, Tuveri T, Ivaldi G & Harteveld CL (2009), Two new beta-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention, Haematologica 94(9): 1289-1292.
- Bezerra MACB, Araujo AS, Phylipsen M, Balak D, Kimura EM, Oliveira DM, Costa FF, Sonati MF & Harteveld CL (2008), The deletion of SOX8 is not associated with ATR-16 in an HbH family from Brazil, British Journal of Haematology 142(2).
- Harteveld CL, Refaldi C, Cassinerio E, Cappellini MD & Giordano PC (2008), Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients, Blood Cells, Molecules and Diseases 40(3).
- Harteveld CL, Wijermans PW, Arkesteijn SGJ, Van Delft P, Kerkhoffs JL & Giordano PC (2008), Hb LEPORE-LEIDEN: A NEW delta/beta REARRANGEMENT ASSOCIATED WITH A beta-THALASSEMIA MINOR PHENOTYPE, Hemoglobin 32(5).
- van den Ouweland JMW, van Daal H, Klaassen CH, van Aarssen Y, Harteveld CL & Giordano PC (2008), The silent hemoglobin alpha chain variant Hb Riccarton [alpha 51(CE9)Gly -> Ser] may affect HbA1c determination on the HLC-723 G7 analyzer, Clinical Chemistry and Laboratory Medicine 46(6).
- Wajcman H, Traeger-Synodinos J, Papassotiriou I, Giordano PC, Harteveld CL, Baudin-Creuza V & Old J (2008), Unstable and thalassemic alpha-chain hemoglobin variants: A cause of Hb H disease and thalassemia intermedia, Hemoglobin 32(4).
- Harteveld CL, Kriek M, Bijlsma EK, Erjavec Z, Balak D, Phylipsen M, Voskamp A, di Capua E, White SJ & Giordano PC (2007), Refinement of the genetic cause of ATR-16, Human Genetics 122(3-4).
- Nooitgedagt JE, Harteveld CL, Starreveld JS, Versteegh FGA & Giordano PC (2007), A new deletion defect leading to alpha-thalassaemia in a large Dutch Caucasian family, British Journal of Haematology 136(4).
- Cremonesi L, Ferrari M, Giordano PC, Harteveld CL, Kleanthous M, Papasavva T, Patrinos GP & Traeger-Synodinos J (2007), An overview of current microarray-based human globin gene mutation detection methods, Hemoglobin 31(3).
- Harteveld CL, Versteegh FGA, van Leer EHG, Starreveld JS, Kok PJMJ, van Rooijen-Nijdam I, van Delft P, Zanella-Cleon I, Becchi M, Wajcman H & Giordano PC (2007), Hb St. Jozef, a val -> leu N-terminal mutation leading to retention of the methionine, and partial acetylation found in the globin gene in cis with a -alpha(3.7) thalassemia deletion, Hemoglobin 31(3).
- Harteveld CL, van Helden WCH, Boxma GL, van Delft P, Bakker-Verweij M, Wajcman H, Zanella-Cleon I, Becchi M & Giordano PC (2007), Hb zoetermeer: A new mutation on the alpha 2 gene inducing an Ala -> Ser substitution at codon 21 is possibly associated with a mild thalassemic phenotype, Hemoglobin 31(3).
- Giordano PC, Zweegman S, Akkermans N, Arkesteijn SGJ, van Delft P, Versteegh FGA, Wajcman H & Harteveld CL (2007), The first case of Hb Groene Hart [alpha 119(H2)Pro -> Ser, CCT -> TCT (alpha 1)] homozygosity confirms that a thalassemia phenotype is associated with this abnormal hemoglobin variant, Hemoglobin 31(2).
- Giordano PC, Addo-Daaku A, Sander MJ, van Rooijen-Nijdam I, van Delft P, Harteveld CL & Kok PJMJ (2007), The rare Hb Showa-Yakushiji [beta 110(G12)Leu -> Pro, CTG -> CCG] in combination with an alpha gene triplication found in a Dutch patient during her first pregnancy examination, Hemoglobin 31(2).
- Harteveld CL, Voskamp A, Phylipsen M, Akkermans N, den Dunnen JT, White SJ & Giordano PC (2005), Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification, Journal of Medical Genetics 42(12).
- Giordano PC, Dihal AA & Harteveld CL (2005), Estimating the attitude of immigrants toward primary prevention of the hemoglobinopathies, Prenatal Diagnosis 25(10).
- Giordano PC, Bouva MJ, Van Delft P, Akkerman N, Kappers-Klunne MC & Harteveld CL (2005), A new polyadenylation site mutation associated with a mild beta-thallassemia phenotype, Haematologica 90(4).
- van der Padt A, Bouva M, Auwerda JJA, Dees A, Harteveld CL & Giordano PC (2005), Adult onset of a thalassemia intermedia genotype in association with A -alpha-(3.7) homozygosity. Hb G-accra [beta 73(E17)Asp -> Asn] in combination with beta- and alpha- thalassemia in the same family, Hemoglobin 29(4).
- Harteveld CL, Vervloet M, Zweegman S, van Delft P, Akkermans N, Arkestijn S & Giordano PC (2005), Hb Amsterdam [alpha 32(B13)Met -> Ile (alpha 2)]: A new unstable variant associated with an alpha-thalassemia phenotype and a new African polymorphism, Hemoglobin 29(4).
- Harteveld CL, Thelen MHM, Rutten JJA, Leuverman J, Akkermans N, van Delft P, Arkesteijn S & Giordano PC (2005), Hb geldrop St. anna [beta 94(FG1)Asp -> Tyr]: A new hemoglobin variant observed in a diabetic patient, Hemoglobin 29(2).
- Harteveld CL, Rozendaal L, Blom NA, Lo-A-Njoe S, Akkerman N, Arkestijn S, Van Delft P & Giordano PC (2005), Hb Oegstgeest [alpha 104(G11)Cys -> Ser (alpha 1)]. A new hemoglobin variant associated with a mild alpha-thalassemia phenotype, Hemoglobin 29(3).
- Harteveld CL, Groeneveld JHM, van Dam B, Van Delft P, Akkerman N, Arkesteijn S & Giordano PC (2005), Hb zoeterwoude [beta 23(B5)Val -> Ala)]: A new beta-globin variant found in association with erythrocytosis, Hemoglobin 29(1).
- Yavarian M, Karimi M, Zorai A, Harteveld CL & Giordano PC (2005), Molecular basis of Hb H disease in southwest Iran, Hemoglobin 29(1).
- Yavarian M, Karimi M, Bakker E, Harteveld CL & Giordano PC (2004), Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients, Haematologica 89(10).
- van Moorsel CHM, van Wijngaarden EE, Fokkema IFAC, den Dunnen JT, Roos D, van Zwieten R, Giordano PC & Harteveld CL (2004), beta-globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays, European Journal of Human Genetics 12(7).
- Giordano PC, Bouva MJ & Harteveld CL (2004), A confidential inquiry estimating the number of patients affected with sickle cell disease and thalassemia major confirms the need for a prevention strategy in The Netherlands, Hemoglobin 28(4).
- Harteveld CL, Wijermans PW, van Delft P, Rasp E, Haak HL & Giordano PC (2004), An alpha-thalassemia phenotype in a Dutch Hindustani, caused by a new point mutation that creates an alternative splice, donor site in the first Exon of the alpha 2-globin gene, Hemoglobin 28(3).
- Harteveld CL, Wijermans PW, de Ree JELM, Ter Hal P, Van Delft P, Van Rooijen-Nijdam IH, Rasp E, Kok PJMJ, Souverijn JHM, Versteegh FGA & Giordano PC (2004), A new Hb Evanston allele [alpha 14(A12)Trp -> Arg] found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases, Hemoglobin 28(1).
- Harteveld CL, Van Delft P, Akkermans N, Arkesteijn S, Van Rooijen-Nijdam IH, Kok PJMJ, Versteegh FGA & Giordano PC (2004), Hb buffalo [alpha 89(FG1)His -> Gln (alpha 1]), observed solely and in the presence of an Hb S [beta 6(A3)Glu -> Val] heterozygosity, Hemoglobin 28(3).
- Regtuijt ME, Harteveld CL, Van Delft P, Akkermans N & Giordano PC (2004), Hb Suan-Dok [alpha 109(G16)Leu -> Arg; CTG--> CGG (alpha 2)] - Described in a patient of African ancestry, Hemoglobin 28(3).
- Karimi M, Yavarian M, Delbini P, Harteveld CL, Farjadian S, Fiorelli G & Giordano PC (2004), Spectrum and haplotypes of the HFE hemochromatosis gene in Iran: H63D in beta-thalassemia major and the first E277K homozygous, Hematology Journal 5(6).
- Harteveld CL, Yavarian M, Zorai A, Quakkelaar ED, van Delft P & Giordano PC (2003), Molecular spectrum of alpha-thalassemia in the Iranian population of Hormozgan: Three novel point mutation defects, American Journal of Hematology 74(2).
- Harteveld CL, Osborne CS, Peters M, van der Werf S, Plug R, Fraser P & Giordano PC (2003), Novel 112 kb (epsilon(G)gamma(A)gamma) delta beta-thalassaemia deletion in a Dutch family, British Journal of Haematology 122(5).
- Ball LM, Lankester AC, Giordano PC, van Weel MH, Harteveld CL, Bredius RGM, Smiers FJ, Egeler RM & Vossen JMJJ (2003), Paediatric allogeneic bone marrow transplantation for homozygous beta-thalassaemia, the Dutch experience, Bone Marrow Transplantation 31(12).
- Harteveld CL, van Delft P, Wijermans PW, Kappers-Klunne MC, Weegenaar J, Losekoot M & Giordano PC (2003), A novel 7 center dot 9 kb deletion causing alpha(+)-thalassaemia in two independent families of Indian origin, British Journal of Haematology 120(2).
- Harteveld CL, Van Lom K, Garcia EBG, van Delft P & Giordano PC (2003), The Dutch IVS-I-116 (A -> G) (alpha 2) Thalassemia mutation induces Hb H inclusion bodies when found in combination with the -alpha(3.7) deletion defect, Hemoglobin 27(1).
- Harteveld CL, Muglia M, Passarino G, Kielman MF & Bernini LF (2002), Genetic polymorphism of the major regulatory element HS-40 upstream of the human alpha-globin gene cluster, British Journal of Haematology 119(3).
- Wenning MRSC, Harteveld CL, Giordano PC, Kimura EM, Saad STO, Costa FF & Sonati MF (2002), Hemoglobin H disease resulting from the association of the - alpha(3.7) rightward deletion and the (alpha alpha)(MM) deletion in a Brazilian patient, European Journal of Haematology 69(3).
- Harteveld CL, Van Delft P, Plug RJ, Erjavec Z, Wajcman H & Giordano PC (2002), Hb Delfzicht [alpha 9(A7)Asn -> Lys (A1)]: A new, clinically silent hemoglobin variant observed in a Dutch patient, Hemoglobin 26(2).
- Harteveld CL, van Delft P, Plug R, Versteegh FGA, Hagen B, van Rooijen I, Kok PJMJ, Wajcman H, Kister J & Giordano PC (2002), Hb groene hart: A new Pro -> Ser amino acid substitution at position 119 of the alpha 1-globin chain is associated with a mild alpha-thalassemia phenotype, Hemoglobin 26(3).
- Zorai A, Harteveld CL, Bakir A, Van Delft P, Falfoul A, Dellagi K, Abbes S & Giordano PC (2002), Molecular spectrum of alpha-thalassemia in Tunisia: Epidemiology and detection at birth, Hemoglobin 26(4).
- Harteveld CL, Traeger-Synodinos J, Ragusa A, Fichera M, Kanavakis E, Kattamis C, Giordano P, Schiliro G & Bernini LF (2001), Different geographic origins of Hb constant spring [alpha(2) codon 142 TAA -> CAA], Haematologica 86(1).
- Harteveld C, Plug RJ, Van Delft P, Van Helden WCH & Giordano PC (2001), Hb 'T Lange Land [beta 136(H14)Gly -> Arg]: A new hemoglobin variant described in a Dutch patient of Chinese origin, Hemoglobin 25(3).
- Yavarian M, Harteveld CL, Batelaan D, Bernini LF & Giordano PC (2001), Molecular spectrum of beta-thalassemia in the Iranian province of hormozgan, Hemoglobin 25(1).
- Giordano PC & Harteveld CL (2000), Letter to the editor and authors' response: Chromatographic measurements of hemoglobin A(2) in blood samples containing sickle hemoglobin, Annals of Clinical and Laboratory Science 30(4).
- Harteveld CL, Beijer C, van Delft P, Zanardini R, Bernini LF & Giordano PC (2000), alpha-Thalassaemia as a result of a novel splice donor site mutation of the alpha(1)-globin gene, British Journal of Haematology 110(3).
- Kerkhoffs JL, Harteveld CL, Wijermans P, van Delft P, Haak HL, Bernini LF & Giordano PC (2000), Very mild pathology in a case of Hb S/beta(0)-thalassemia in combination with a homozygosity for the alpha-thalassemia 3.7 kb deletion.