Hemoglobinopathies and Red cell Diagnostics
Human and Clinical Genetics
Leiden University Medical Center
A selection from the recent years of scientific output (2005-1996)
Updated January 2006

  1. Giordano PC, Maatman RG, Niessen RW, van Delft P, Harteveld CL. Beta thalassemia IVS-I-5(G-->C) heterozygosity masked by the presence of HbJ-Meerut in a Dutch-Indian patient. Haematologica. 2006 Dec;91(12 Suppl):ECR56.
  2. Vasseur-Godbillon C, Marden MC, Giordano P, Wajcman H, Baudin-Creuza V. Impaired binding of AHSP to alpha chain variants: Hb Groene Hart illustrates a mechanism leading to unstable hemoglobins with alpha thalassemic like syndrome. Blood Cells Mol Dis. 2006 Nov-Dec;37(3):173-9.
  3. Giordano PC, Harteveld CL. Prevention of hereditary haemoglobinopathies in The Netherlands. Ned Tijdschr Geneeskd. 2006 Sep 30;150(39):2137-41. Review.
  4. Slomp J, Bosschaart A, Dousma M, van Zwieten R, Giordano PC, van den Bergh FA. Acute anaemia in a Vietnamese patient with alpha-thalassaemia and a parvovirus infection. Ned Tijdschr Geneeskd. 2006 Jul 15;150(28):1577-82.
  5. Leers MP, Pelikan HM, Salemans TH, Giordano PC, Scharnhorst V. Discriminating fetomaternal hemorrhage from maternal HbF-containing erythrocytes by dual-parameter flow cytometry. Eur J Obstet Gynecol Reprod Biol. 2006 Jul 24; Epub ahead of print.
  6. Bouva MJ, Harteveld CL, Bakker-Verweij G, van Delft P, Giordano PC. Ggamma -37 (A-->T): a new nondeletional hereditary persistence of fetal hemoglobin determinant associated with the rare codon 91 (+T) delta0-thalassemia.Hemoglobin. 2006;30(3):371-7.
  7. Harteveld CL, Versteegh FG, Kok PJ, van Rooijen-Nijdam IH, van Delft P, Giordano PC. Hb Bleuland [alpha108(G15)Thr-->Asn, ACC-->AAC (alpha2)]: a new abnormal hemoglobin associated with a mild alpha-thalassemia phenotype. Hemoglobin. 2006;30(3):349-54.
  8. Eng B, Patterson M, Walker L, Hoppe C, Azimi M, Lee H, Giordano PC, Waye JS. Three new alpha-thalassemia point mutations ascertained through newborn screening. Hemoglobin. 2006;30(2):149-53.
  9. Giordano PC, Plancke A, Van Meir CA, Janssen CA, Kok PJ, Van Rooijen-Nijdam IH, Tanis BC, van Huisseling JC, Versteegh FG. Carrier diagnostics and prevention of hemoglobinopathies in early pregnancy in The Netherlands: a pilot study. Prenat Diagn. 2006 Aug;26(8):719-24.
  10. Viprakasit V, Harteveld CL, Ayyub H, Stanley JS, Giordano PC, Wood WG, Higgs DR. A novel deletion causing alpha thalassemia clarifies the importance of the major human alpha globin regulatory element. Blood. 2006 May 1;107(9):3811-2.
  11. Harteveld CL, Jebbink MC, van der Lely N, van Delft P, Akkermans N, Arkesteyn S, Giordano PC. Alpha-thalassemia phenotype induced by the new IVS-II-2 (T --> A) splice donor site mutation on the alpha2-globin gene. Hemoglobin. 2006;30(1):3-7.
  12. Harteveld CL, Steen G, Vlasveld LT, van Delft P, Giordano PC. Hb Bronovo, a new globin gene mutation at alpha2 103 (His->Leu) associated with an alpha thalassemia phenotype. Haematologica. 2006 Apr;91(4):570-1.
  13. Bouva MJ, Harteveld CL, van Delft P, Giordano PC. Known and new delta globin gene mutations and their diagnostic significance. Haematologica. 2006 Jan;91(1):129-32.
  14. van der Padt A, Bouva M, Auwerda JJ, Dees A, Harteveld CL, Giordano PC. Adult onset of a Thalassemia intermedia genotype in association with a -alpha-3.7 homozygosity. Hb G-Accra [beta73(e17)Asp-->Asn] in combination with beta- and alpha-thalassemia in the same family. Hemoglobin. 2005;29(4):269-76.
  15. Harteveld CL, Vervloet M, Zweegman S, van Delft P, Akkermans N, Arkestijn S, Giordano PC. Hb Amsterdam [alpha32(B13)Met--Ile (alpha2)]: a new unstable variant associated with an alpha-thalassemia phenotype and a new African polymorphism. Hemoglobin. 2005;29(4):257-62.
  16. Giordano PC. Brief comment on the case report by Fattori et al. 2005 (5) 589-590. Haematologica. 2005 Nov;90 Suppl:ELT03.
  17. Giordano PC, Dihal AA, Harteveld CL. Estimating the attitude of immigrants toward primary prevention of the hemoglobinopathies. Prenat Diagn. 2005 Oct;25(10):885-93.
  18. Harteveld CL, Rozendaal L, Blom NA, Lo-A-Njoe S, Akkerman N, Arkestijn S, Van Delft P, Giordano PC. Hb Oegstgeest [alpha104(G11)Cys-->Ser (alpha1)]. A new hemoglobin variant associated with a mild alpha-thalassemia phenotype. Hemoglobin. 2005;29(3):165-9.
  19. Harteveld CL, Thelen MH, Rutten JJ, Leuverman J, Akkermans N, van Delft P, Arkesteijn S, Giordano PC. Hb Geldrop St. Anna [beta94(FG1)Asp --> Tyr]: a new hemoglobin variant observed in a diabetic patient. Hemoglobin. 2005;29(2):107-12.
  20. Harteveld CL, Voskamp A, Phylipsen M, Akkermans N, den Dunnen JT, White SJ, Giordano PC. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet. 2005 Dec;42(12):922-31. Epub 2005 May 13.
  21. Giordano PC, Bouva MJ, Van Delft P, Akkerman N, Kappers-Klunne MC, Harteveld CL. A new polyadenylation site mutation associated with a mild beta-thalassemia phenotype. Haematologica. 2005 Apr;90(4):551-2.
  22. Yavarian M, Karimi M, Zorai A, Harteveld CL, Giordano PC. Molecular basis of Hb H disease in southwest Iran. Hemoglobin. 2005;29(1):43-50.
  23. Giordano PC, Bouva MJ, Harteveld CL. 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. 2004;28(4):287-96.
  24. Harteveld CL, Groeneveld JH, van Dam B, Van Delft P, Akkerman N, Arkesteijn S, Giordano PC. Hb zoeterwoude [beta23(B5)Val-->Ala)]: a new beta-globin variant found in association with erythrocytosis. Hemoglobin. 2005;29(1):11-7.
  25. Stamoulakatou A, Athanasiou-Metaxa M, Traeger-Synodinos J, Lazaropoulou C, Harteveld K, Premetis E, Tsantali H, Zorai A, Giordano P, Papassotiriou I, Kanavakis E. Rare thalassemic syndrome caused by interaction of Hb Questembert (alpha1 codon 131, TCT>CCT, Ser>Pro) with an alpha-thalassemia-2 deletion: implications for diagnosis and management. Blood Cells Mol Dis. 2004 Jan-Feb;32(1):118-23.
  26. Giordano PC, Bouva MJ, Harteveld CL. 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. 2004;28(4):287-96.
  27. Harteveld CL, Van Delft P, Akkermans N, Arkesteijn S, Van Rooijen-Nijdam IH, Kok PJ, Versteegh FG, Giordano PC. Hb Buffalo [alpha89(FG1)His-->Gln (alpha1)], observed solely and in the presence of an Hb S [beta6(A3)Glu-->Val] heterozygosity. Hemoglobin, 28: 223-227, 2004.
  28. Harteveld CL, Wijermans PW, van Delft P, Rasp E, Haak HL, Giordano PC. 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 alpha2-globin gene. Hemoglobin, 28: 255-259, 2004.
  29. Harteveld CL, Wijermans PW, de Ree JE, Ter Hal P, Van Delft P, Van Rooijen-Nijdam IH, Rasp E, Kok PJ, Souverijn JH, Versteegh FG, Giordano PC. A new Hb evanston allele [alpha14(A12)Trp --> Arg] found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases. Hemoglobin, 28: 1-5, 2004.
  30. Karimi M, Yavarian M, Delbini P, Harteveld CL, Farjadian S, Fiorelli G, Giordano PC. Spectrum and haplotypes of the HFE hemochromatosis gene in Iran: H63D in beta-thalassemia major and the first E277K homozygous. Hematol J, 5: 524-527, 2004.
  31. Moorsel CH van, van Wijngaarden EE, Fokkema IF, den Dunnen JT, Roos D, van Zwieten R, Giordano PC, Harteveld CL. Beta-Globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays. Eur J Hum Genet, 12: 567-573, 2004.
  32. Regtuijt ME, Harteveld CL, Van Delft P, Akkermans N, Giordano PC. Hb Suan-Dok [alpha109(G16)Leu-->Arg; CTG-->CGG (alpha2)] described in a patient of African ancestry. Hemoglobin, 28: 173-176, 2004.
  33. Yavarian M, Karimi M, Bakker E, Harteveld CL, Giordano PC. Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients. Haematologica, 89: 1172-1178, 2004.
  34. Zorai A, Harteveld CL, Rachdi R, Dellagi K, Abbes S, Delbini P, Giordano PC. Frequency and spectrum of hemochromatosis mutations in Tunisia. Hematol J. 2003;4(6):433-5.
  35. Harteveld CL, Yavarian M, Zorai A, Quakkelaar ED, van Delft P, Giordano PC. Molecular spectrum of alpha-thalassemia in the Iranian population of Hormozgan: three novel point mutation defects. Am J Hematol. 2003 Oct; 74(2): 99-103.
  36. Harteveld CL, Osborne CS, Peters M, van der Werf S, Plug R, Fraser P, Giordano PC. Novel 112 kb (epsilonGgammaAgamma) deltabeta-thalassaemia deletion in a Dutch family. Br J Haematol. 2003 Sep; 122(5): 855-8.
  37. Ball LM, Lankester AC, Giordano PC, van Weel MH, Harteveld CL, Bredius RG, Smiers FJ, Egeler RM, Vossen JM. Paediatric allogeneic bone marrow transplantation for homozygous beta-thalassaemia, the Dutch experience. Bone Marrow Transplant. 2003 Jun; 31(12): 1081-7.
  38. Giordano PC. The effect of iron deficiency anemia on the levels of hemoglobin subtypes: possible consequences for clinical diagnosis. Clin Lab Haematol. 2003 Jun; 25(3): 203.
  39. Harteveld CL, Van Lom K, Gomez Garcia EB, van Delft P, Giordano PC. The Dutch IVS-I-116 (A --> G) (alpha2) thalassemia mutation induces Hb H inclusion bodies when found in combination with the -alpha3.7 deletion defect. Hemoglobin. 2003 Feb; 27(1): 49-51.
  40. Harteveld CL, van Delft P, Wijermans PW, Kappers-Klunne MC, Weegenaar J, Losekoot M, Giordano PC. A novel 7.9 kb deletion causing alpha+-thalassaemia in two independent families of Indian origin. Br J Haematol. 2003 Jan; 120(2): 364-6.
  41. Giordano PC. The effect of iron deficiency anemia on the levels of hemoglobin subtypes: possible consequences for clinical diagnosis. Clin Lab Haem. 2003, 25: 203.
  42. Giordano PC. Diseases in new places: changing opinion in Holland. Thalassemia International Federation Magazine, 2003, 39:13-16.
  43. Ragusa A, Amata S, Lombardo T, Castiglia L, Redelsperger MM, Labie D, Bernini L. Asymptomatic and milde beta thalassemia in homozygotes and compound heterozygotes for the IVS2+1GÔāģA mutation: role of the ÔĀĘ-globin gene haplotype. Hematologica 2003, 88(10):1099-1105.
  44. Elion-Gerritzen WE, Giordano PC, Haak HL. De standaard 'Anemie in de eerstelijns verloskundige praktijk' van de Koninklijke Nederlandse Organisatie van Verloskundigen (KNOV): risico voor het niet onderkennen van ijzergebrek en hemoglobinopathie. Ned Tijdschr Geneeskd, 146, 457-459, 2002
  45. Giordano PC. Diagnosis of Hemoglobinopathies. Eur J Hum Genet, 10, 672, 2002.
  46. Harteveld CL, van Delft P, Plug RJ, Versteegh FG, Hagen B, van Rooijen I, Kok PJ, Wajcman H, Kister J, Giordano PC. Hb Groene Hart: a new Pro-->Ser amino acid substitution at position 119 of the alpha1-globin chain is associated with a mild alpha-thalassemia phenotype. Hemoglobin, 26, 255-260, 2002.
  47. Harteveld CL, van Delft P, Plug RJ, Erjavec Z, Wajcman H, Giordano PC. Hb Delfzicht [alpha9(A7)Asn-->Lys (alpha1)]: a new, clinically silent hemoglobin variant observed in a Dutch patient. Hemoglobin, 26, 181-184, 2002.
  48. Harteveld CL, Muglia M, Passarino G, Kielman MF, Bernini LF. Genetic polymorphism of the major regulatory element HS-40 upstream of the human alpha-globin gene cluster. Br J Haematol, 119, 848-854, 2002.
  49. Karimi M, Yarmohammadi H, Farjadian S, Zeinali S, Moghaddam Z, Cappellini MD, Giordano PC. Beta-thalassemia intermedia from southern Iran: IVS-II-1 (G-->A) is the prevalent thalassemia intermedia allele. Hemoglobin, 26, 147-154, 2002.
  50. Wenning MR, Harteveld CL, Giordano PC, Kimura EM, Saad ST, Costa FF, Sonati ME. Hemoglobin H disease resulting from the association of the - alpha 3.7 rightward deletion and the (alpha alpha)MM deletion in a Brazilian patient. Eur J Haematol, 69, 179-181, 2002.
  51. Zorai A, Harteveld CL, Bakir A, van Delft P, Falfoel A, Dellagi K, Abbes S, and Giordano PC. Molecular spectrum of alfa thalassemia in Tunesia: Epidemiology and detection at birth. Hemoglobin, 26, 253-362, 2002.
  52. Giordano PC. Dragerschapsanalyse van hemoglobinopathieŽn. Analyse 57(5);128-132, 2002.
  53. Giordano PC. Stigmatiseren helpt niet. Sikkelcelziekte en thalassemie vragen om preventiestrategie. Medisch Contact 57(44);1607-1610, 2002.
  54. Harteveld CL, van Delft P, Wijermans PW, Kapper-Klunne MC, Weegenaar J, Losekoot M and Giordano PC. A novel 7.9 kb deletion causing a+-thalassemia in two independent families of Indian origin. Br. J. Haematol, 2003, 120: 364-366.
  55. Kayser M, Krawczak M, Excoffier L, Dieltjes P, Corach D, Pascali V, Gehrig C, Bernini LF, Jespersen J, Bakker E, Roewewr L de Knijff P (2001) An extensive analysis of Y-chromosomal microsatellite haplotypes in globally dispersed human populations. Am J Hum Genet 48(4):990-1018.
  56. Giordano PC (2001) Hoe is de onderzoeks- en behandelstrategie bij Turkse patiŽnten met een laag Hb? Vademecum. Permanente nascholing huisartsen jaargang 19 nr. 11.
  57. 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): 35-43.
  58. Harteveld CL, Traeger-Synodinos J, Ragusa A, Fichera M, Kanavakis E, Kattamis C, Giordano PC, Schiliro G and Bernini LF (2001) Different geographic origins of Hb Constant Spring (a2 codon 142 TAA>CAA). Haematologica, 86:36-38
  59. Lankester AJ, Alikhan R, Ball LM, Giordano PC, Egeler M, Vossen JM. Improvement of long term stable engraftment following Melfalan containing conditioning regimen in children undergoing stem cell transplant for beta-thalassemia. Blood (2001) ASH abstracts 5049
  60. Kok PJMJ, Harteveld CL, van Delft P, Plug R, Versteegh FGA, Giordano PC. A new Pro>Ser aminoacid substitution at position 119 of the alpha-1 globin chain induces a mild alpha-thalassemia phenotype in a Moroccan family. Eur. J Hum Genet (2001) P1570
  61. Harteveld CL, van Delft P, Wijermans PW, Kappers Klunne MC, Giordano PC. A novel 7.9 kb deletion causing alpha+-thalassemia in two independent families. Eur. J Hum Genet (2001) P1567
  62. Giordano PC, Harteveld CL, van Delft P, Plug R, Versteegh FGA and Kok PJMJ. Hb-Groene Hart. Mild alpha-thalassemia phenotype induced by a new abnormal hemoglobin. Nederlands Tijdschrift voor Klinische Chemie 2001: 26 (2) abstract nr 29
  63. Harteveld CL, van Delft P, Wijermans PW, Kappers-Klunne MC and Giordano PC. Alpha+-thalassemia induced by a novel deletion. (2001) Nederlands Tijdschrift voor Klinische Chemie 2001: 26 (2) abstract nr 30
  64. Yavarian M, Delbini P, Plug R, Giordano PC, Harteveld CL and Fiorelli G. Molecular analysis of the HFE hemochromatosis gene in two population samples of the Iranian province of Hormuzgan. European Iron Club Annual Meeting 2001
  65. Giordano PC, Doorduin JK, Harteveld CL, van Delft P, Plug R and Bernini LF. Elevated HbE expression in association with a silent GAG>GAA transition at position 6 of the beta-globin gene. The 8th International Conference on Thalassemia and the Hemoglobinopathies 2001 abstract nr P95
  66. Giordano PC, Harteveld CL and Bernini LF. Prevention of hemoglobinopathies in the immigrant populations of northern Europe: The Netherlands. The 8th International Conference on Thalassemia and the Hemoglobinopathies 2001 abstract nr P09
  67. Giordano PC, Harteveld CL, van Delft P, Plug R and Bernini LF. Hb-M Saskatoon as a de novo event in a Dutch girl. The 8th International Conference on Thalassemia and the Hemoglobinopathies 2001 abstract nr P94
  68. Harteveld CL, Erjavec Z, van Delft P, Plug R, Wajcman H and Giordano PC. Hb Delfzicht: A new abnormal hemoglobin induced by a Asn>Lys substitution at cd9 of the alpha1 globin gene. The 8th International Conference on Thalassemia and the Hemoglobinopathies 2001 abstract nr P88
  69. Harteveld CL, van der Werf S, Plug R, van Delft P and Giordano PC. Molecular analysis of delta-globin gene defects. The 8th International Conference on Thalassemia and the Hemoglobinopathies 2001 abstract nr P90
  70. Harteveld CL, van Delft P, Versteegh FGA, Kok PJMJ, Wajcman H and Giordano PC. Hb-Groene Hart: a mild alpha-thalassemia induced by a new amino acid substitution of the alpha1 globin chain. The 8th International Conference on Thalassemia and the Hemoglobinopathies 2001 abstract nr P93
  71. Harteveld CL, Peters M, Plug R, van der Werf S, and Giordano PC. Novel large (eGgAg)db-thalassemia deletion in a Dutch Family. The 8th International Conference on Thalassemia and the Hemoglobinopathies 2001 abstract nr P92
  72. Harteveld CL, Yavarian M, Plug R, van Delft P and Giordano PC. IVS-II-613 (C>T): New beta-thalassemia determinant or rare polymorphism? The 8th International Conference on Thalassemia and the Hemoglobinopathies 2001 abstract nr P89
  73. Harteveld CL, Yavarian M, Quakkelaar ED, van Delft P and Giordano PC. Molecular spectrum of alpha-thalassemia and a new alpha2 cd19 (-G) point mutation in the Iranian population of Hormuzgan. The 8th International Conference on Thalassemia and the Hemoglobinopathies 2001 abstract nr P91
  74. Yavarian M, Almoazzez M, Kazem Nezhad A, Harteveld CL and Giordano PC. Survival analysis of transfusion dependent thalassemia patients in the Iranian province of Hormuzgan. The 8th International Conference on Thalassemia and the Hemoglobinopathies 2001 abstract nr P143
  75. Giordano PC, Harteveld CL, Dihal A, Bernini LF (2000) Prevention of hemoglobinopathies in the Netherlands: An individual approach based on information and prospective diagnostiscs. The Hematology Journal. 1:31.P120
  76. Harteveld CL, ten Cate J, Goedhard J, Plug R, Van Delft P, Giordano PC (2000) Hb-Okyama: the second case in a North-European Patient. The Hematology Journal. 1:32.P123
  77. Plug R, Harteveld CL, Van Delft P, Bernini LF, Giordano PC (2000) The rare HbK-Ibadan mutant observed in a Dutch patient. (2000) Eur Jour Hum Genet. 8(1);153 P615
  78. Giordano PC, Harteveld CL (2000) Information and carrier diagnostiscs as a basis for hemoglobinopathies prevention in The Netherlands: A task for the first line healthcare. Eur Jour Hum Genet. 8(1);54 P128.
  79. Giordano PC, Harteveld CL, Heister JGAM, Batelaan D, van Delft P, Plug R, Losekoot M and Bernini LF (1999) The molecular spectrum of b-thalassemia and abnormal hemoglobins in the allochthonous and autochthonous Dutch population. Community Genetics 1:243-251.
  80. Giordano PC (1999) HemoglobinopathieŽn in Nederland, diagnostiek epidemiologie en preventie. Tijdschr. Kindergeneeskd 67:42-43.
  81. Giordano PC, Michiels JJ (1999) Hoe dient de laboratorium diagnostiek van thalassemie dragerschap stapsgewijs te zijn opgebouwd. Internisten Vademecum nr.5 (1999-3)
  82. Van den Berg HM, Bruin MCA, Batelaan D, van Delft P, van Zwieten R, Roos D, Harteveld CL, Bernini LF, Giordano PC (1999) Hb Nijkerk: a new mutation at codon 138/139 of the b-globin gene inducing severe hemolitic anemia in a Dutch girl. Hemoglobin 23:135-144.
  83. Cremers AHJM, van Herp ANJ, Giordano PC, Haak HL, Huisma W, Middelkoop BJC, Ong de Jongste, Tiemen A, Wijkman GJ and Yap KB (1998) onder redactie van Vroom-Jongerden jm, Onderzoek in het kort: HemoglobinopathieŽn. Epidemiologisch Bulletin 33:27-28
  84. Giordano PC, Harteveld CL, Bernini LF (1999) Hemoglobinopathies in Northern-Europe: Pitfals of diagnosis and prevention in The Netherlands. Eur. Jour. Hum Genet 7(s):56.
  85. Harteveld CL, Yavarian M, Batelaan D, Bernini LF, Giordano PC (1999) Molecular diversity of b-thalassemia in the immigrant population at risk in the North-European countries and in the country of origin: The Iranian population of Hormozgan. Eur. Jour. Hum Genet 7(s):143.
  86. Giordano PC, Harteveld CL, Bernini LF (1999) The need for diagnosisi and prevention of hemoglobinopathies in Northern Europe: The Dutch situation. Haematologica 84:103-104.
  87. Yavarian M, Harteveld CL, Batelaan D, Bernini LF, Giordano PC (1999) Molecular spectrum of b-thalassemia in multietnic populations: The Iranian province of Hormozgan. Haematologica 84:104.
  88. Traeger-synodinos J, Harteveld CL, Kanavakis E, Giordano PC, Bernini LF, Kattamis C (1999) Hb- Aghia Sophia, a deletion of codon 62 of the a1 gene causing a+ thalassemia. Haematologica 84:104.
  89. Giordano PC, Harteveld CL, Batelaan D, van Delft P, Bernini LF (1999) A mild form of b-thalassemia induced by the -88(C>T)defect and a new polyadenylation site mutation. Haematologica 84:104.
  90. Giordano PC, van Delft P, Batelaan D, Harteveld CL and Bernini LF (1999) Hemoglobinopathy analyses in the Netherlands: a report of an in vitro globin chain biosynthesis survey using a rapid, modified method. Clin. Lab. Haem. 21:247-255.
  91. Giordano PC, Harteveld CL, Doorduijn JK, Geenen AA, Kok PJM, Versteeg FGA, Batelaan D, van Delft P, Bernini LF (1999) Hb Osu-Christianborg: a rare abnormal hemoglobin observed in two independent families in The Netherlands. Ned Tijdschr Klin Chem 24:287-291.
  92. Van Weel M, Harteveld CL, Bernini LF, Brouwers THM, Giordano PC (1999). The second case of dominant b-thalassemia induced by the cd127 (CAG>TAG) described as a de novo mutation in a Dutch boy. Hemoglobin 23:389-393
  93. Traeger Synodinos J, Harteveld CL, Kanavakis E, Giordano PC, Kattamis CH, Bernini LF (1999) Hb-Aghia Sophia: a162 (E11) Val>0), an "in frame" deletion causing a-thalassemia. Hemoglobin 23: 317-324.
  94. Wajcman H, Kister J, Riou J., Galacteros F., Girot R., Maier-Redelsperger M, NVS Nayudu & Giordano PC (1998) A neutral aminoacid substitution in the a1a2 interface that modifies the electrophoretic mobility of hemoglobin. Hemoglobin 22:11-22
  95. Giordano PC & Harteveld CL (1998) HemoglobinopathieŽn in Nederland: de rol van de huisarts in dragerschapsdiagnostiek en preventie. Huisarts & Wetenschap 6:290-295.
  96. Giordano PC, Harteveld CL, Heister JGAM, Batelaan D, van Delft P, Losekoot M and Bernini LF (1998) b-thalassemia, a-thalassemia and abnormal hemoglobins in the allochthonous and autochthonous Dutch population. Br J Haematol 102(1):49.
  97. Harteveld CL, Giordano PC, van Delft P, Batelaan D, Beyer C and Bernini LF (1998) A novel splice donor site mutation of the a1-globin gene causing a-thalassemia. Br J Haematol 102(1):50.
  98. Harteveld CL, Giordano PC, Zanardini R, van Delft P, Batelaan D, Bernini LF (1998) Genotype fenotype correlation of deletion and non deletion a-thalassemia. Br J Haematol 102(1):52.
  99. Harteveld CL, Traeger-Synodinos, Ragusa A, Fichera M, Kattamis C, Kanavakis E, Giordano PC, SchilirÚ G, Bernini LF (1998) Multicentric origin of Hb Constant Spring a2 codon 142 TAA>CAA. Br J Haematol 102(1):50.
  100. Giordano PC, Harteveld CL, Bok V, van Delft P, Batelaan D, Breslau-Siderius EJ, Bernini LF (1998) A complex hemoglobinopathy diagnosis in a family with both aį- and aį/+-thalassemia homozygosity. Eur J Hum Genet 7:163-168.
  101. Giordano PC, Harteveld CL, Haak HL, Batelaan D, van Delft P, Plug RJ, Emonts M, Zanardini R, Bernini LF (1998) A case of non-b-globin gene linked b-thalassaemia in a Dutch family with two additionaland a-gene defects: The common -a3.7 deletion and the rare IVS-I-116 (A>G) acceptor splice site mutation. Br.J.Haematol 103:370-376.
  102. Giordano PC, Harteveld CL, Michiels JJ, Terpstra W, Schelfhout LJDM, Appel IM, Batelaan D, van Delft P, Plug RJ, Bernini LF (1998). Phenotype variability of the dominant b-thalassemia induced in four Dutch families by the rare cd 121 (G>T) mutation Ann Hematol 77:249-255.
  103. Harteveld CL, Giordano PC, Heister JGAM, Batelaan D, van Delft P, Plug RJ, Losekoot M, Bernini LF (1998) b-thalassemie, a-thalassemie en abnormale hemoglobines in de allochtone en autochtone Nederlandse populatie. Ned Tijschr Geneesk 142:2275.
  104. Mesker WE, Ouwerkerk-van Velzen MC, Oosterwijk JC, Bernini LF, Golbus MS, Kanhaay HH, van Ommen GJ, Tanke HJ (1998) Two colour immunocytochemical staining of gamma and epsilon type haemoglobin in fetal red cells. Prenatal Diagnosis 18:1131-1137
  105. Bouhassira EE, Kileman MF, Gilman J, Fabry MF, Suzuka S, Leone O, Gikas E, Bernini LF, Nagel RL (197). Properties of the mouse a-globin HS-26; Relationship to HS-40, the major enhancer of human a-globin gene expression. Am J Hematol 54:30-39
  106. Giordano PC, Losekoot M, Harteveld CL, Michiels JJ, Terpstra W, Plug RJ, Wijnen JTH, van der Wielen MJR & Bernini LF (1997) Atypical HbH disease in a Surinamese patient resulting from a combination of the --SEA -a3,7 deletion with HbC heterozygosity. British J Hematol 96:801-805
  107. Egberts J, van Kamp IL, Kanhay HH, Giordano PC, Gravenhorst JB (1997) The disappearance of fetal and donor red blood cells in alloimmunized pregnancies: a reappraisal. British Jour Obstet Gynaecol 104:818-824
  108. Harteveld CL, Losekoot M, Fodde R, Giordano PC & Bernini LF (1997) The involvment of Alu repeats in recombination events at the a-globin gene cluster: characterization of two aį-thalassemia deletion breakpoints. Human Genet 99:528-534
  109. Harteveld CL, Losekoot M, Heister JGAM, van der Wielen MJR, Giordano PC & Bernini LF (1997) a-thalassemia in The Netherlands: a heterogeneous spectrum of both deletions and point mutations. Human Genet 100:465-471
  110. Harteveld CL, Heister JGAM, Giordano PC, Losekoot M and Bernini LF (1996) Rapid detection of point mutations and polymorphisms of the a-globin genes by DGGE and SSCA. Human Mutation 7:114-122.
  111. Giordano PC, Harteveld CL, Geenen A, Batelaan D, Amons R, and Bernini LF (1996) Hb-Gouda [a72(EF1) His>Gln], a new silent a-chain variant. Hemoglobin 20:21-29
  112. Giordano PC, Harteveld CL, Brand A, Willems L, Plug RJ and Bernini LF (1996) Hb MalmŲ [b97(FG4) His>Glu] cause polycythemia in a Dutch family. Ann Hematol 73:183-188
  113. Harteveld CL, Giordano PC, van den Berg HM, and Bernini LF (1996) Hb Utrecht [a2 129 (H12) Leu>Pro] a new unstable a-chain variant associated with a mild a-thalassemia phenotype. British Jour Haematol 94:483-485
  114. Aygun V, van Zwieten R, Pronk-Admiraal CJ, Ponjee GAE, de Regt J, Harteveld CL, Giordano PC & Roos D (1996) A Dutch family with Hb-Atlanta [b75(E19)Leu>Pro]. Hemoglobin 20:351-359
  115. Rosetto M, Manetti AGO, Giordano PC, Marri L, Baldari CT, Marchini D, Bernini LF and Dallai R (1996) Molecular characteriation of ceratotoxin C, a novel antibacterial female-specific peptide of the ceratotoxin family from the medfly Ceratitis Capitata. Eur. J Biochem 241:330-337
  116. Abels J, Michiels JJ, Giordano PC, Bernini LF, Baysal E, Smetanina NS, Kazanetz EG, Leonova JY, Huisman THJ (1996) A de novo deletion causing b-thalassemia in a Dutch patient. Acta Haematol 96:108-109
  117. Kielman MF, Barradeau S, Smits R, Harteveld CL, Bernini LF (1996) Characterisation and localisation of the mProx-1 gene direcly upsream of the mouse a-globin gene cluster: identification of a polymorphic direct repeat in the 5'UTR. Mammalian genome 7:877-880
  118. Kielman MF, Smits R, Hof I, Bernini LF (1996) Characterisation and comparison of the human and mouse Dist 1/a-globin complex reveals a tightly packed multiple gene cluster containing differentially expressed transcription units. Genomics 32:341-351
  119. Passarino G, Semino O, Modiano G, Bernini LF, Santachiara Beneceretti AS (1996) MtDNA provides the first known marker distinguishing proto-Indians from the other Caucasoids; it probably predates the diversification between Indians and Orientals. Annals of Human Biology 23:121-126.
  120. Passarino G, Semino O, Bernini LF, Santachiara-Beneceretti AS (1996) Pre-Cauacasoid and Caucasoid genetic features of the Indian population, revealed by mtDNA polymorphisma. Am J Hum Genet 59:927-934
  121. Oosterwijk JC, Mesker WE, Ouwekerk MC, Kenpfke CF, van den Burg MJ, Wiesmejer CC, Bewerstock GC, Losekoot M, Bernini LF, van Ommen GJ, van der Kamp JJ, Kanhai HH, Tanke HJ (1996) Detection of fetal erythroblasts in maternal blood by one-stap gradient enrichment and immunocytochemical recognition. Early Human Development 47:S95-97
  122. Peters DJM, Spruit L, Klingel R, Prins F, Baelde HJJ, Giordano PC, Bernini LF, de Heer E, Breuning MH and Bruijn JA (1996) Adult, fetal, and polycystic kidney expression of polycystin, The polycystic disease-1 gene product. Lab invest 75:221-230
  123. Harteveld CL, Heister JGAM, Giordano PC, Batelaan DN, van Delft P, Haak HL, Wijermans PW, Losekoot M, and Bernini LF (1996) An IVS1-116 (AAG) acceptor splice site mutation in the a2 globine gene causing a+ thalassemia in two Dutch families. British Jour Haematol 95:461-466.
Books and dissertations:

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 patiŽnten, 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 hemoglobinopathieŽn 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) HemoglobinopathieŽn 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