Publicaties


2010

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]. Phylipsen M, Harteveld CL, de Metz M, Gallivan MV, Arkesteijn SG, Luo HY, Chui DH, Giordano PC. Hemoglobin. 2010;34(5):445-50

Hb St. Truiden [α68(E17)Asn→His] and Hb Westeinde [α125(H8)Leu→Gln]: two new abnormalities of the α2-globin gene. Kaufmann JO, Phylipsen M, Neven C, Huisman W, van Delft P, Bakker-Verweij M, Arkesteijn SG, Harteveld CL, Giordano PC. Hemoglobin. 2010;34(5):439-44

A new alpha(0)-thalassemia deletion found in a Dutch family (–(AW)). Phylipsen M, Vogelaar IP, Schaap RA, Arkesteijn SG, Boxma GL, van Helden WC, Wildschut IC, de Bruin-Roest AC, Giordano PC, Harteveld CL. Blood Cells Mol Dis. 2010 Aug 15;45(2):133-5

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. Phylipsen M, Gallivan MV, Arkesteijn SG, Harteveld CL, Giordano PC. Int J Lab Hematol. 2010 Jul 29

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.

Giordano PC, Cnossen MH, Joosten AM, Jansen CA, Hakvoort TE, Bakker-Verweij M, Arkesteijn SG, van Delft P, Waye JS, Bouva MJ, Harteveld CL. Hemoglobin. 2010;34(4):354-65

Newborn screening for hemoglobinopathies using capillary electrophoresis technology: testing the Capillarys Neonat Fast Hb device. Mantikou E, Harteveld CL, Giordano PC. Clin Biochem. 2010 Nov;43(16-17):1345-50

Phenotypic expression and origin of the rare beta-thalassemia splice site mutation HBB:c.315 + 1G>T.

Broquere C, Brudey K, Harteveld CL, Saint-Martin C, Elion J, Giordano PC, Romana M. Hemoglobin. 2010 Jun;34(3):322-6

Alpha-thalassaemia. Harteveld CL, Higgs DR. Orphanet J Rare Dis. 2010 May 28;5:13. Review

Extended molecular spectrum of beta- and alpha-thalassemia in Oman. Hassan SM, Hamza N, Jaffer Al-Lawatiya F, Jaffer Mohammed A, Harteveld CL, Rajab A, Giordano PC. Hemoglobin. 2010 Jan;34(2):127-34

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]. Phylipsen M, Prior JF, Lim E, Lingam N, Finlayson J, Arkesteijn SG, Harteveld CL, Giordano PC. Hemoglobin. 2010 Jan;34(2):123-6

Beta-globin gene cluster haplotypes in Yemeni children with sickle cell disease. Al-Saqladi AW, Brabin BJ, Bin-Gadeem HA, Kanhai WA, Phylipsen M, Harteveld CL. Acta Haematol. 2010;123(3):182-5

Hb Den Haag [beta45(CD4)Phe–>Tyr]. A new hemoglobin variant observed during early pregnancy diagnostics. Kaufmann JO, Harteveld CL, Bakker-Verweij M, Arkesteijn SG, van Delft P, Haak H, Wijermans PW, Kerkhoffs JL, Giordano PC. Hemoglobin. 2010;34(1):37-44

Thalassemia in Western Australia: 11 novel deletions characterized by Multiplex Ligation-dependent Probe Amplification. Phylipsen M, Prior JF, Lim E, Lingam N, Vogelaar IP, Giordano PC, Finlayson J, Harteveld CL.

Blood Cells Mol Dis. 2010 Mar 15;44(3):146-51

alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha2-globin gene. Harteveld CL, Oosterhuis WP, Schoenmakers CH, Ananta H, Kos S, Bakker Verweij M, van Delft P, Arkesteijn SG, Phylipsen M, Giordano PC. Eur J Haematol. 2010 Apr;84(4):354-8


2011

Human mitochondrial ATP-binding cassette transporter ABCB10 is required for efficient red blood cell development. Tang L, Bergevoet SM, Bakker-Verweij G, Harteveld CL, Giordano PC, Nijtmans L, de Witte T, Jansen JH, Raymakers RA, van der Reijden BA. Br J Haematol. 2011 Nov 16. doi: 10.1111/j.1365-2141.2011.08936.x. [Epub ahead of print].

Iron depletion: an ameliorating factor for sickle cell disease? Giordano PC, Huisman W, Harteveld CL. ISRN Hematol. 2011;2011:473152. Epub 2011 Jul 5.

Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements. Phylipsen M, Chaibunruang A, Vogelaar IP, Balak JR, Schaap RA, Ariyurek Y, Fucharoen S, den Dunnen JT, Giordano PC, Bakker E, Harteveld CL. Hum Mutat. 2011 Sep 15. doi: 10.1002/humu.21612. [Epub ahead of print]

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Giardine B, Borg J, Higgs DR, Peterson KR, Philipsen S, Maglott D, Singleton BK, Anstee DJ, Basak AN, Clark B, Costa FC, Faustino P, Fedosyuk H, Felice AE, Francina A, Galanello R, Gallivan MV, Georgitsi M, Gibbons RJ, Giordano PC, Harteveld CL, Hoyer JD, Jarvis M, Joly P, Kanavakis E, Kollia P, Menzel S, Miller W, Moradkhani K, Old J, Papachatzopoulou A, Papadakis MN, Papadopoulos P, Pavlovic S, Perseu L, Radmilovic M, Riemer C, Satta S, Schrijver I, Stojiljkovic M, Thein SL, Traeger-Synodinos J, Tully R, Wada T, Waye JS, Wiemann C, Zukic B, Chui DH, Wajcman H, Hardison RC, Patrinos GP. Nat Genet. 2011 Mar 20;43(4):295-301.

Hb Boskoop [HbA2c.112C>T p.Pro38Ser]: a new α2 chain variant observed in a Morrocan family. Versteegh FG, Arkesteijn SG, Bakker-Verweij M, Haanappel K, van Delft P, Phylipsen M, Kaufmann JO, Kok PJ, Lansbergen GW, Giordano PC, Harteveld CL. Hemoglobin. 2011;35(2):97-102.

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. Phylipsen M, Gallivan MV, Arkesteijn SG, Harteveld CL, Giordano PC. Int J Lab Hematol. 2011 Feb;33(1):85-91.


2012

Tritipsombut J, Phylipsen M, Viprakasit V, Chalaow N, Sanchaisuriya K, Giordano PC, Fucharoen S, Harteveld CL. A Single-Tube Multiplex Gap-Polymerase Chain Reaction for the Detection of Eight β-Globin Gene Cluster Deletions Common in Southeast Asia. Hemoglobin. 2012;36(6):571-80.

Harteveld CL, Refaldi C, Giambona A, Ruivenkamp CA, Hoffer MJ, Pijpe J, Knijff PD, Borgna-Pignatti C, Maggio A, Cappellini MD, Giordano PC. Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major. Haematologica. 2012 Sep

Phylipsen M, Yamsri S, Treffers EE, Jansen DT, Kanhai WA, Boon EM, Giordano PC, Fucharoen S, Bakker E, Harteveld CL.  Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis. Prenat Diagn. 2012 Jun;32(6):578-87.

Harteveld CL, Ponjee G, Bakker-Verweij M, Arkesteijn SG, Phylipsen M, Giordano PC. Hb Haaglanden: a new nonsickling β7Glu>Val variant. Consequences for basic diagnostics, screening, and risk assessment when dealing with HbS-like variants. Int J Lab Hematol. 2012 Oct;34(5):551-5.

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. A novel α(0) -thalassemia deletion in a Greek patient with HbH disease and β-thalassemia trait. Eur J Haematol. 2012 Apr;88(4):356-62.

Hernanda PY, Tursilowati L, Arkesteijn SG, Ugrasena ID, Larasati MC, Soeatmadji SM, Giordano PC, Harteveld CL. Towards a prevention program for β-thalassemia. The molecular spectrum in East Java, Indonesia. Hemoglobin. 2012;36(1):1-6.

Phylipsen M, Chaibunruang A, Vogelaar IP, Balak JR, Schaap RA, Ariyurek Y, Fucharoen S, den Dunnen JT, Giordano PC, Bakker E, Harteveld CL. Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements. Hum Mutat. 2012 Jan;33(1):272-80.

Tang L, Bergevoet SM, Bakker-Verweij G, Harteveld CL, Giordano PC, Nijtmans L, de Witte T, Jansen JH, Raymakers RA, van der Reijden BA. Human mitochondrial ATP-binding cassette transporter ABCB10 is required for efficient red blood cell development. Br J Haematol. 2012 Apr;157(1):151-4.


2013

van Gammeren AJ, Jonkers M, Harteveld CL. Complex neonatal hemoglobin pattern due to co-inheritance of Hb Q-Thailand and Hb E. Int J Lab Hematol. 2013 Mar 25. doi: 10.1111/ijlh.12062. [Epub ahead of print]

Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP. Mutations in MED12 cause X-linked Ohdo syndrome. Am J Hum Genet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7.

Harteveld CL. State of the art and new developments in molecular diagnostics for hemoglobinopathies in multiethnic societies. Int J Lab Hematol. 2013 May 31. doi: 10.1111/ijlh.12108. [Epub ahead of print] (REVIEW)

van der Land V, Peters M, Biemond BJ, Heijboer H, Harteveld CL, Fijnvandraat K. Markers of endothelial dysfunction differ between subphenotypes in children with sickle cell disease. Thromb Res. 2013 Dec;132(6):712-7. doi: 10.1016/j.thromres.2013.10.006. Epub 2013 Oct 12

Harteveld CL, Refaldi C, Giambona A, Ruivenkamp CA, Hoffer MJ, Pijpe J, De Knijff P, Borgna-Pignatti C, Maggio A, Cappellini MD, Giordano PC. Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major. Haematologica. 2013 May;98(5):691-5.


2014

Traeger-Synodinos J, Harteveld CL. Advances in technologies for screening and diagnosis of hemoglobinopathies. Biomark Med. 2014 Jan;8(1):119-31

van Zwieten R, Veldthuis M, Delzenne B, Berghuis J, Groen J, Ait Ichou F, Clifford E, Harteveld CL, Stroobants AK. Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones. Hemoglobin. 2014;38(1):1-7. doi: 10.3109/03630269.2013.849608. Epub 2013 Nov 7

Hassan SM, Harteveld CL, Bakker E, Giordano PC. Molecular spectrum of α-globin gene defects in the Omani population.Hemoglobin. 2014;38(6):422-6.

Hassan SM, Al Muslahi M, Al Riyami M, Bakker E, Harteveld CL, Giordano PC. Sickle cell anemia and α-thalassemia: a modulating factor in homozygous HbS/S patients in Oman. Eur J Med Genet. 2014 Nov-Dec;57(11-12):603-6.

Marsella M, Salvagno G, Dolcini B, Ferlini A, Ravani A, Harteveld CL, Giordano PC, Borgna-Pignatti C. Characterization of Hb Calvino (HBB: c.406G > A): a new silent β-globin gene variant found in coexistence with α-thalassemia in a family of African origin. Hemoglobin. 2014;38(5):369-72

Van Laer C, Harteveld CL, Pauwels S, Desmet K, Kieffer D. Aberrant glycated haemoglobin (HbA1c) results leading to haemoglobinopathy diagnosis in four Belgian patients. Acta Clin Belg. 2014 Dec;69(6):456-9.

Hassan SM, Harteveld CL, Bakker E, Giordano PC. Known and new δ-globin gene mutations and other factors influencing Hb A2 measurement in the Omani population.

Hemoglobin. 2014;38(4):299-302.

Giordano PC, Harteveld CL, Bakker E. Genetic epidemiology and preventive healthcare in multiethnic societies: the hemoglobinopathies. Int J Environ Res Public Health. 2014 Jun 11;11(6):6136-46.

Hassan SM, Vossen RH, Chessa R, den Dunnen JT, Bakker E, Giordano PC, Harteveld CL. Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA Ion Torrent PGM technology. Blood Cells Mol Dis. 2014 Sep;53(3):133-7.


2015

Traeger-Synodinos J, Harteveld CL, Old JM, Petrou M, Galanello R, Giordano P, Angastioniotis M, De la Salle B, Henderson S, May A. EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies. Eur J Hum Genet. 2015 Apr;23(4):426-37.

Hassan SM, Harteveld CL, Bakker E, Giordano PC. Hb Lansing (HbA2: c.264C > G) and a New β Promoter Transversion [-52 (G > T)]: An Attempt to Define the Phenotype of Two Mutations Found in the Omani Population. Hemoglobin. 2015;39(2):111-4

Hassan SM, Harteveld CL, Bakker E, Giordano PC. Broader Spectrum of β-Thalassemia Mutations in Oman: Regional Distribution and Comparison with Neighboring Countries.

Hemoglobin. 2015;39(2):107-10.

Schiemsky T, Van Hoovels L, Desmet KJ, Phylipsen M, Harteveld CL, Kieffer DM.

A Mosaic Expression of a Hb J-Amiens (HBB: c.54G > T; p.Lys18Asn) and its Interference with Hb A1c Analysis. Hemoglobin. 2015;39(6):435-7

van den Oever JM, van Minderhout IJ, Harteveld CL, den Hollander NS, Bakker E, van der Stoep N, Boon EM. A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma. J Mol Diagn. 2015 Sep;17(5):590-6


2016

Harteveld CL, Pissard S, Korver AM, Riou J, Legac E, Lansbergen G, Pardijs IL, Giordano PC, Versteegh FG. Hb Olivet (HBA1: C.40G > A; p.Ala14Thr), a Novel Silent Hemoglobin Variant in Two Families of Distinct Origin. Hemoglobin. 2016 Sep;40(5):349-352

Clark B, Shooter C, Smith F, Brawand D, Steedman L, Oakley M, Rushton P, Rooks H, Wang X, Drousiotou A, Kyrri A, Hadjigavriel M, Will A, Fisher C, Higgs DR, Phylipsen M, Harteveld C, Kleanthous M, Thein SL. Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis. Br J Haematol. 2016 Jul 29. doi: 10.1111/bjh.14294. [Epub ahead of print]

Peeters B, Brandt I, Desmet K, Harteveld CL, Kieffer D. 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 (HbA1C) analysis or Hb variant screening. Acta Clin Belg. 2016 Dec;71(6):458-461

de-la-Cruz-Salcedo EI, Ibarra B, Rizo-de-la-Torre LC, Sánchez-López JY, González-Mercado A, Harteveld CL, Perea-Díaz FJ. 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). Int J Lab Hematol. 2016 Oct;38(5):535-42

Engert A, Balduini C, Brand A, Coiffier B, Cordonnier C, Döhner H, de Wit TD, Eichinger S, Fibbe W, Green T, de Haas F, Iolascon A, Jaffredo T, Rodeghiero F, Salles G, Schuringa JJ; The European Hematology Association Roadmap for European Hematology Research: a consensus document. EHA Roadmap for European Hematology Research. Haematologica. 2016 Feb;101(2):115-208

Kieffer DM, Harteveld CL, Lee da H, Schiemsky T, Desmet KJ, Gillard P. Hemoglobin A2-Leuven (α2δ2 143(H21) His>Asp): a novel delta-chain variant potentially interfering in hemoglobin A1c measurement using cation exchange HPLC. Clin Chem Lab Med. 2016 May;54(5):e161-3


2017:

Natiq A, Lysy PA, Gillemans N, Schaap R, Sefiani A, Amzazi S, Chafai El-Alaoui S, Cantú I, Banjanin B, van Lom K, Harteveld CL, Philipsen S. Hereditary persistence of fetal hemoglobin in two patients with KLF1 haploinsufficiency due to 19p13.2-p13.12/13 deletion.

Am J Hematol. 2017 Jan;92(1):E2-E3. doi: 10.1002/ajh.24574. Epub 2016 Nov 12.

Traeger-Synodinos J, Harteveld CL. Preconception carrier screening and prenatal diagnosis in thalassemia and hemoglobinopathies: challenges and future perspectives.

Expert Rev Mol Diagn. 2017 Mar;17(3):281-291.

Old J, Harteveld K. Carrier screening for the haemoglobinopathies: past, present and future. Review article OBM Genetics Special Issue “ Genetic Screening” (in press)


2018:

Grimholt RM, Harteveld CL, Arkesteijn SGJ, Fjeld B, Klingenberg O. Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance. Hemoglobin. 2018 Mar;42(2):126-128. doi: 10.1080/03630269.2018.1473255. Epub 2018 Jul 26.

Pondman KM, Brinkman JW, van der Straaten HM, Stroobants AK, Harteveld CL. Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T], A Second and Third Case Described in Two Unrelated Dutch Families. Hemoglobin. 2018 Jan;42(1):51-53. doi: 10.1080/03630269.2018.1429280. Epub 2018 Feb 6.

Paleari R, Ceriotti F, Harteveld CL, Strollo M, Bakker-Verweij G, Ter Huurne J, Bisoen S, Mosca A. Calibration by commutable control materials is able to reduce inter-method differences of current high-performance methods for HbA2. Clin Chim Acta. 2018 Feb;477:60-65. doi: 10.1016/j.cca.2017.12.001. Epub 2017 Dec 5.

Farashi S, Harteveld CL. Molecular basis of α-thalassemia. Blood Cells Mol Dis. 2018 May;70:43-53. doi: 10.1016/j.bcmd.2017.09.004. Epub 2017 Sep 21. Review.

In press:

Dr Barbara De la Salle, A. D. Stephens, B. J. Wild, Dr S. Thorpe, Dr C. L. Harteveld, K. Hyde, Initial evaluation of the WHO International Reference Reagent for Hb A2 quantitation. IJLH Dec 2018

Ahlem Achour1, Elke de Grouw2 , Femke van Erp3, Sandra Arkesteijn1, Rianne Schaap1, Jeanet ter Huurne1, Sharda Bisoen1, Maaike Verschuren1 and Cornelis L. Harteveld1

The first report of Haemoglobin E in combination with the highly unstable alpha-globin variant Hb Adana: The importance of  molecular confirmation. IJLH Dec 2018


2019:

Traeger-Synodinos J, Bosch CAJ, Vrettou C, Maragoudaki L, Apostolidis J, Kanavakis E, Kattamis C, Arkesteijn SGJ, Hoffer MJV, Ruivenkamp CAL, Harteveld CL. Adult-onset beta-thalassaemia intermedia caused by a 5-Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β-globin locus. Br J Haematol. 2019 Sep;186(6):e165-e170. doi: 10.1111/bjh.16043. Epub 2019 Jun 17.

Adewoyin A, Ogbenna AA, Harteveld CL. Laboratory quality systems in clinical laboratory practice in Lagos, Nigeria (West Africa): Associated problems and prospects. Int J Lab Hematol. 2019 Dec;41(6):e130-e133. doi: 10.1111/ijlh.13038. Epub 2019 Apr 26.

De la Salle B, Stephens AD, Wild BJ, Harteveld CL, Hyde K. Evaluation of the suitability of the World Health Organization International Reference Reagent for Hb A2 quantitation (89/666) for continued use. Int J Lab Hematol. 2019 Apr;41(2):262-270. doi: 10.1111/ijlh.12966. Epub 2019 Jan 20.

Achour A, de Grouw E, van Erp F, Arkesteijn S, Schaap R, Huurne JT, Bisoen S, Verschuren M, Harteveld CL. The first report of hemoglobin E in combination with the highly unstable alpha-globin variant Hb Adana: The importance of molecular confirmation. Int J Lab Hematol. 2019 Jun;41(3):e76-e78. doi: 10.1111/ijlh.12965. Epub 2019 Jan 20.


2020:

Mosca A, Paleari R, Harteveld CL; IFCC ICSH Joint Working Group for standardization of HbA2. A roadmap for the standardization of hemoglobin A2.  Clin Chim Acta. 2021 Jan;512:185-190. doi: 10.1016/j.cca.2020.11.008. Epub 2020 Nov 10. PMID: 33181152

Babbs C, Brown J, Horsley SW, Slater J, Maifoshie E, Kumar S, Ooijevaar P, Kriek M, Dixon-McIver A, Harteveld CL, Traeger-Synodinos J, Wilkie AOM, Higgs DR, Buckle VJ. ATR-16 syndrome: mechanisms linking monosomy to phenotype. J Med Genet. 2020 Jun;57(6):414-421. doi: 10.1136/jmedgenet-2019-106528. Epub 2020 Jan 31. PMID: 32005695

Wild BJ, Chohan DK, Harteveld CL, De la Salle B. Further evaluation of the world health organization international reference reagent for Haemoglobin A2 measurement.

Int J Lab Hematol. 2020 Dec 2. doi: 10.1111/ijlh.13403. Online ahead of print. PMID: 33264474

van Gammeren AJ, Pelkmans L, Endschot CCWV, Roelofsen-de Beer RJAC, Harteveld CL. An Unusual Compound Heterozygosity for Hb O-Arab (HBB: c.364G>A) and Hb D-Los Angeles (HBB: c.364G>C).

Hemoglobin. 2020 Jan;44(1):61-63. doi: 10.1080/03630269.2019.1710530. Epub 2020 Jan 23. PMID: 31973650

Achour A, Koopmann T, Castel R, Santen GWE, den Hollander N, Knijnenburg J, Ruivenkamp CAL, Arkesteijn SGJ, Ter Huurne J, Bisoen S, Verschuren M, Vijfhuizen L, Schaap R, Grimbergen A, Slomp J, Traeger-Synodinos J, Vrettou C, Pissard S, Galacteros F, Baas F, Harteveld CL.

A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H.

Blood. 2020 Oct 8;136(15):1789-1793. doi: 10.1182/blood.2020005934. PMID: 32589702

 Saller E, Knijnenburg J, Harteveld CL, Dutly F. A Woman with Missing Hb A2 Due to a Novel (εγ)δβ0-Thalassemia and a Novel δ-Globin Variant Hb A2-Gebenstorf (HBD: c.209G>A).Hemoglobin. 2020 May;44(3):214-217. doi: 10.1080/03630269.2020.1779739. Epub 2020 Jul 1. PMID: 32605393


Books and dissertations:

Old J., Harteveld CL, Traeger-Synodinos J, Petrou M, Angastiniotis M, and Galanello R. Prevention of thalassaemias and other haemoglobin disorders. Volume 2: Laboratory protocols, 2nd edition Publishers Thalassaemia International Federation, 2012, ISBN 978-9963-717-01-9

Hooijkaas H., Mohrmann K., Smeets, L.C., Souverijn J.H.M., Taks G.H.M. Handboek medische laboratoriumdiagnostiek. Prelum uitgevers, Houten 2013.

Angastiniotis M, Eleftheriou A, Galanello R, Harteveld CL, Petrou M, Traeger-Synodinos J, Giordano P, Jauniaux E, Modell B, Serour G; Old J, editor. Prevention of Thalassaemias and Other Haemoglobin Disorders: Volume 1: Principles [Internet]. 2nd edition. Nicosia, Cyprus: Thalassaemia International Federation; 2013

Bernini L.F.. The alfa thalassemias in Disorders of Hemoglobin, Steinberg Forget Higgs and Nagel editors, Cambridge university press
Giordano PC. Preventie van Cystisch Fibrose en Hb-pathie Major in de huisarts praktijk. In Vordering en Praktijk. Boerhaave editie 2002. ISBN: 90-6767-510-5
Giordano PC and Harteveld CL. Hemoglobinopathies in Immigrant Polulations: Setting Up Prevention Strategies in The Netherlands. Proceedings of the 7th meeting of the European Hematological Association. Monduzzi editors ISBN 88-323-2606-x
Giordano PC (2002) Sikkelcelziekte en Thalassemie. Informatie voor patiënten, dragers en betrokkenen bij de gezondheidszorg. ISBN 90-807039-1-5
Giordano PC (2001) Bijdrage in Werkboek Kinderhematologie. Redactie v.d. Berg et al, VU uitgeverij ISBN 90-5383-776-0
Bernini LF (2001) Geographic distribution of alpha thalassaemiac. Chapter in Disorders of Hemoglobin. Steinberg et al ed. Cambridge University Press
Bernini LF & Harteveld CL (1999) Alpha thalassaemia. Chapter in Sickle cell disease and thalassaemia. Bailliere’s Clinical Haematology
Giordano PC (1999) Preventie van hemoglobinopathieën In Nederland. Chapter in Vorderingen en Praktijk. Boerhaave publication
Harteveld CL (1998) The molecular genetics of alpha thalassemia. Dissertation ISBN 90-9011199-9
Giordano PC (1998) Hemoglobinopathieën in Nederland. Diagnostiek, epidemiologie en preventie. Dissertation ISBN 90-9011949-3
Kielman MF (1996) The alpha globin domain of man and mouse. Dissertation ISBN 90-9010164-0
Giordano PC (1994) Decision Making in Postnatal Hematological Analysis. Chapter in Hemoglobinopathies and Todays Genetics (van Ommen, Fodde, Giordano, Losekoot editors). Boerhaave publication ISBN 90-6767-268-8
Losekoot M (1990) Structure and expression of the beta globin gene cluster. Dissertation (Leiden)
Fodde R (1990) Evolution of multigene families: Hemoglobins and haptoglobins. Dissertation (Leiden)


Promotions

  1. Amine Zorai in het proefschrift “Les Alpha Thalassemies en Tunisie: Abords moleculair et correlation phenotype-Genotype. Septembre 11, 2004”. Universite de Tunis, Universite de Bizerte. Proefschrift deels in Leiden toot stand gekomen m.b.v. een Nederlandse Tunesische studiebeurs en in Tunis verdedigd. Co-promotor: Giordano PC
  2. Majid Yavarian. Hemoglobinopathies in Nederland. Molecular spectrum, prevention and treatment. Leiden, 26 januari 2005. ISBN nr.: 90-9018926-2. Promotoren E. Bakker & P.C. Giordano
  3. Marion Phylipsen.  Development of new technological applications for post- and prenatal diagnosis of the hemoglobinopathies. Leiden, 27 juni 2013. Promotor: E.Bakker, Co-promotor: C.L.Harteveld
  4. Suha Hassan. “Towards prevention of hemoglobinopathies in Oman”, 22 september 2015. Promotor: E.Bakker, Co-promotoren: P.C.Giordano en C.L.Harteveld