C. Harteveld

发表

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

Philippe Joly, Jan Traeger-Synodinos, Webb Miller, 2011, Nature Genetics.

BEST PRACTICE RECOMMENDATIONS

Michael Angastiniotis, John Old, Joanne Traeger-Synodinos, 2012 .

Advances in technologies for screening and diagnosis of hemoglobinopathies.

J. Traeger-Synodinos, C. Harteveld, 2014, Biomarkers in medicine.

Unstable and Thalassemic α Chain Hemoglobin Variants: A Cause of Hb H Disease and Thalassemia Intermedia

I. Papassotiriou, J. Traeger-Synodinos, V. Baudin-Creuza, 2008, Hemoglobin.

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.

E. Mantikou, P. Giordano, C. Harteveld, 2009, Clinical biochemistry.

Frequency of α-Globin Gene Triplications and Their Interaction with β-Thalassemia Mutations

P. Giordano, C. Harteveld, Margaretha Bakker-Verwij, 2009, Hemoglobin.

Primary prevention of hemoglobinopathies by prenatal diagnosis and selective pregnancy termination in a Muslim country: Oman

E. Bakker, P. Giordano, C. Harteveld, 2014 .

Preconception carrier screening and prenatal diagnosis in thalassemia and hemoglobinopathies: challenges and future perspectives

J. Traeger-Synodinos, C. Harteveld, 2017, Expert review of molecular diagnostics.

Hb Olivet (HBA1: C.40G > A; p.Ala14Thr), a Novel Silent Hemoglobin Variant in Two Families of Distinct Origin

F. Versteegh, P. Giordano, C. Harteveld, 2016, Hemoglobin.

State of the art and new developments in molecular diagnostics for hemoglobinopathies in multiethnic societies

C. Harteveld, C. Harteveld, 2014, International journal of laboratory hematology.

Human mitochondrial ATP‐binding cassette transporter ABCB10 is required for efficient red blood cell development

J. Jansen, L. Nijtmans, B. A. van der Reijden, 2012, British journal of haematology.

The silent hemoglobin α chain variant Hb Riccarton [α51(CE9)Gly→Ser] may affect HbA1c determination on the HLC-723 G7 analyzer

J. M. van den Ouweland, H. van Daal, P. Giordano, 2008, Clinical chemistry and laboratory medicine.

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

K. Desmet, P. Gillard, C. Harteveld, 2016, Clinical chemistry and laboratory medicine.

A Dutch Fay with Hb Atlanta [β75(E19)Leu → Pr0]

C. J. Pronk-Admiraal, D. Roos, G. Ponjee, 1996 .

Markers of endothelial dysfunction differ between subphenotypes in children with sickle cell disease.

B. Biemond, M. Peters, H. Heijboer, 2013, Thrombosis research.

Aberrant glycated haemoglobin (HbA1c) results leading to haemoglobinopathy diagnosis in four Belgian patients

K. Desmet, S. Pauwels, C. Van Laer, 2014, Acta clinica Belgica.

Hemoglobin Yamagata [β132(H10)Lys→Asn; (HBB: c.399A>T)]: a mosaic to be put together

P. Pucci, C. Harteveld, G. Barberio, 2021, Clinical chemistry and laboratory medicine.

The Evolving Role of Next-Generation Sequencing in Screening and Diagnosis of Hemoglobinopathies

F. Baas, T. Koopmann, C. Harteveld, 2021, Frontiers in Physiology.

Prevention of Thalassaemias and Other Haemoglobin Disorders

Bernadette Modell, Eric Jauniaux, Michael Angastiniotis, 2013 .

Non‐invasive prenatal diagnosis of beta‐thalassemia and sickle‐cell disease using pyrophosphorolysis‐activated polymerization and melting curve analysis

E. Bakker, W. Kanhai, E. Boon, 2012, Prenatal diagnosis.

Relationship between neonatal screening results by HPLC and the number of α-thalassaemia gene mutations; consequences for the cut-off value

L. Elvers, R. Galanello, L. Perseu, 2011, Journal of medical screening.

Novel 112 kb (epsilonGgammaAgamma) deltabeta-thalassaemia deletion in a Dutch family.

P. Fraser, C. Osborne, M. Peters, 2003, British journal of haematology.

Spectrum and haplotypes of the HFE hemochromatosis gene in Iran: H63D in beta-thalassemia major and the first E277K homozygous.

S. Farjadian, M. Karimi, P. Giordano, 2004, The hematology journal : the official journal of the European Haematology Association.

The First Case of Hb Groene Hart [α119(H2)Pro→Ser, CCT→TCT (α1)] Homozygosity Confirms That a Thalassemia Phenotype Is Associated with this Abnormal Hemoglobin Variant

F. Versteegh, H. Wajcman, S. Zweegman, 2007, Hemoglobin.

A novel deletion causing alpha thalassemia clarifies the importance of the major human alpha globin regulatory element.

D. Higgs, V. Viprakasit, H. Ayyub, 2006, Blood.

Frequency and spectrum of hemochromatosis mutations in Tunisia.

K. Dellagi, S. Abbès, P. Giordano, 2003, The hematology journal : the official journal of the European Haematology Association.

Beta-Globin Gene Cluster Haplotypes in Yemeni Children with Sickle Cell Disease

B. Brabin, W. Kanhai, C. Harteveld, 2010, Acta Haematologica.

α-Thalassemia Phenotype Induced by the New IVS-II-2 (T→A) Splice Donor Site Mutation on the α2-Globin Gene

P. Giordano, C. Harteveld, M. C. Jebbink, 2006 .

Multi Centric Origin of Hb D-Punjab [β121(GH4)Glu→Gln, GAA>CAA]

M. Karimi, P. Giordano, C. Harteveld, 2009, Hemoglobin.

Haplotypes, sub-haplotypes and geographical distribution in Omani patients with sickle cell disease

E. Bakker, P. Giordano, C. Harteveld, 2015 .

Hemoglobin Analyses in The Netherlands Reveal More Than 80 Different Variants Including Six Novel Ones

R. van Zwieten, C. Harteveld, M. Veldthuis, 2014, Hemoglobin.

The hemoglobinopathies, molecular disease mechanisms and diagnostics

T. Koopmann, C. Harteveld, S. Arkesteijn, 2022, International journal of laboratory hematology.

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

K. Desmet, C. Harteveld, I. Brandt, 2016, Acta clinica Belgica.

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

K. Desmet, C. Harteveld, M. Phylipsen, 2015, Hemoglobin.

major human alpha globin regulatory element thalassemia clarifies the importance of the α A novel deletion causing

D. Higgs, V. Viprakasit, H. Ayyub, 2012 .

Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases

B. Tazón-Vega, Q. Waisfisz, G. Santen, 2021, Frontiers in Physiology.

Hb Haaglanden: a new nonsickling β7Glu>Val variant. Consequences for basic diagnostics, screening, and risk assessment when dealing with HbS‐like variants

G. Ponjee, P. Giordano, C. Harteveld, 2012, International journal of laboratory hematology.

Hb Boskoop [HBA2c.112C>T p.Pro38Ser]: A New α2 Chain Variant Observed in a Morrocan Family

F. Versteegh, P. Giordano, C. Harteveld, 2011, Hemoglobin.

New and Known β-Thalassemia Determinants Masked by Known and New δ Gene Defects [Hb A2-Ramallah or δ6(A3)Glu→Gln, GAG>>CAG]

D. Chui, Hong‐yuan Luo, M. Gallivan, 2010, Hemoglobin.

Hb St. Truiden [α68(E17)Asn→His] and Hb Westeinde [α125(H8)Leu→Gln]: Two New Abnormalities of the α2-Globin Gene

P. Giordano, C. Harteveld, M. Phylipsen, 2010, Hemoglobin.

Extended Molecular Spectrum of β- and α-Thalassemia in Oman

P. Giordano, C. Harteveld, Nishath Hamza, 2010, Hemoglobin.

EXTENDED MOLECULAR SPECTRUM OF b- AND a-THALASSEMIA IN OMAN

P. Giordano, C. Harteveld, Nishath Hamza, 2010 .

Laboratory quality systems in clinical laboratory practice in Lagos, Nigeria (West Africa): Associated problems and prospects

C. Harteveld, A. Adewoyin, A. Ogbenna, 2019, International journal of laboratory hematology.

Cyanosis, hemolysis, decreased HbA1c and abnormal co-oximetry in a patient with hemoglobin M Saskatoon [HBB:c.190C > T p.His64Tyr]

A. V. van Gammeren, E. Göttgens, C. Harteveld, 2021, Hematology.

Hb Nile[A1] and Hb Nile[A2]: Novel Identical [α77(EF6)Pro→Ser] Variants Found in Either the α1- or α2-Globin Genes

A. Verhoeven, R. van Zwieten, P. Giordano, 2009, Hemoglobin.

A new deletion defect leading to α‐thalassaemia in a large Dutch Caucasian family

J. S. Starreveld, F. Versteegh, P. Giordano, 2007 .

MOLECULAR SPECTRUM OF α-THALASSEMIA IN TUNISIA: EPIDEMIOLOGY AND DETECTION AT BIRTH

K. Dellagi, S. Abbès, P. Giordano, 2002 .

Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients.

E. Bakker, M. Karimi, P. Giordano, 2004, Haematologica.

Association of XmnI (-158 γG) Polymorphism and Response to Hydroxyurea in Omani S/S and S/β Patients

E. Bakker, P. Giordano, C. Harteveld, 2014 .

A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies

C. Stephanou, C. Bento, C. Harteveld, 2022, International journal of molecular sciences.

2 a-Thalassaemia

L. Bernini, C. Harteveld, 1998 .

Breakpoint characterization of a rare alpha0‐thalassemia deletion using targeted locus amplification on genomic DNA

H. Buermans, S. White, E. D. de Meijer, 2021, International journal of laboratory hematology.

α-thalassaemia

D. Higgs, C. Harteveld, 2010, Orphanet Journal of Rare Diseases.

Prevention of Thalassaemias and Other Haemoglobin Disorders: Volume 1: Principles

E. Jauniaux, G. Serour, J. Traeger-Synodinos, 2013 .

Phenotypic Expression and Origin of the Rare β-Thalassemia Splice Site Mutation HBB:c.315 + 1G>T

J. Elion, P. Giordano, C. Harteveld, 2010, Hemoglobin.

Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification

J. D. den Dunnen, J. D. Dunnen, S. White, 2005, Journal of Medical Genetics.

A Single-Tube Multiplex Gap-Polymerase Chain Reaction for the Detection of Eight β-Globin Gene Cluster Deletions Common in Southeast Asia

V. Viprakasit, P. Giordano, C. Harteveld, 2012, Hemoglobin.

Molecular basis of α-thalassemia.

S. Farashi, C. Harteveld, 2017, Blood cells, molecules & diseases.

A Small Key for a Heavy Door: Genetic Therapies for the Treatment of Hemoglobinopathies

F. Staal, M. Gonçalves, A. Lankester, 2021, Frontiers in Genome Editing.

Homozygosity for a Rare β0-Thalassemia Mutation [Frameshift Codons 25/26 (+T)] Causes β-Thalassemia Intermedia in an Iranian Family

M. H. Hosseinpour Feizi, C. Harteveld, M. Haghi, 2009, Hemoglobin.

Molecular Basis of Hb H Disease in Southwest Iran

M. Karimi, P. Giordano, C. Harteveld, 2005, Hemoglobin.

Molecular spectrum of α‐thalassemia in the Iranian population of Hormozgan: Three novel point mutation defects

P. Giordano, C. Harteveld, E. Quakkelaar, 2003, American journal of hematology.

Known and new delta globin gene mutations and their diagnostic significance.

P. Giordano, C. Harteveld, P. van Delft, 2006, Haematologica.

Sickle cell anemia and α-thalassemia: a modulating factor in homozygous HbS/S patients in Oman.

E. Bakker, P. Giordano, C. Harteveld, 2014, European journal of medical genetics.

Molecular Spectrum of α-Globin Gene Defects in the Omani Population

E. Bakker, P. Giordano, C. Harteveld, 2014, Hemoglobin.

A rare case of coinheritance of Hemoglobin H disease and sickle cell trait combined with severe iron deficiency

A. Buser, J. Passweg, A. Tichelli, 2011, Hematology reports.

The Rare Hb Showa-Yakushiji [β110(G12)Leu→Pro, CTG→CCG] in Combination with an α Gene Triplication Found in a Dutch Patient During Her First Pregnancy Examination

M. J. Sander, P. Giordano, C. Harteveld, 2007, Hemoglobin.

Thalassemia in Western Australia: 11 novel deletions characterized by Multiplex Ligation-dependent Probe Amplification.

P. Giordano, C. Harteveld, M. Phylipsen, 2010, Blood cells, molecules & diseases.

Molecular spectrum of alpha-thalassemia in Tunisia: epidemiology and detection at birth.

K. Dellagi, S. Abbès, P. Giordano, 2002, Hemoglobin.

A novel 7·9 kb deletion causing α+‐thalassaemia in two independent families of Indian origin

M. Losekoot, M. Kappers-Klunne, P. Wijermans, 2003 .

Genetic polymorphism of the major regulatory element HS‐40 upstream of the human α‐globin gene cluster

Maria Muglia, Giuseppe Passarino, M. Muglia, 2002, British journal of haematology.

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

F. Baas, C. Ruivenkamp, J. Traeger-Synodinos, 2020, Blood.

ATR16 Syndrome: Mechanisms Linking Monosomy to Phenotype

A. Wilkie, D. Higgs, J. Traeger-Synodinos, 2019, bioRxiv.

Mutations in MED12 cause X-linked Ohdo syndrome.

B. V. van Bon, A. V. Vulto-van Silfhout, A. Hoischen, 2013, American journal of human genetics.

Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major

P. de Knijff, C. Ruivenkamp, M. Cappellini, 2013, Haematologica.

A novel α0‐thalassemia deletion in a Greek patient with HbH disease and β‐thalassemia trait

J. Traeger-Synodinos, E. Kanavakis, P. Giordano, 2012, European journal of haematology.

Fine‐tiling array CGH to improve diagnostics for α‐ and β‐thalassemia rearrangements

J. D. den Dunnen, Y. Ariyurek, E. Bakker, 2012, Human mutation.

Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance

C. Harteveld, O. Klingenberg, S. Arkesteijn, 2018, Hemoglobin.

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel

K. Michailidou, B. Zilfalil, T. Koopmann, 2021, Human mutation.

Prevention of Thalassaemias and Other Haemoglobin Disorders: Volume 2: Laboratory Protocols

J. Traeger-Synodinos, R. Galanello, M. Angastiniotis, 2012 .

Genetic Epidemiology and Preventive Healthcare in Multiethnic Societies: The Hemoglobinopathies

E. Bakker, P. Giordano, C. Harteveld, 2014, International journal of environmental research and public health.

Prenatal diagnosis of hemoglobin disorders: present and future strategies.

J. Traeger-Synodinos, C. Harteveld, M. Kleanthous, 2009, Clinical biochemistry.

Hb Geldrop St. Anna [β94(FG1)Asp→Tyr]: a New Hemoglobin Variant Observed in a Diabetic Patient

M. Thelen, P. Giordano, C. Harteveld, 2005, Hemoglobin.

Hb Zoeterwoude [β23(B5)Val → Ala)]: A New β-Globin Variant Found in Association with Erythrocytosis

P. Giordano, C. Harteveld, S. Arkesteijn, 2005 .

Recommendations for diagnosis and treatment of methemoglobinemia

A. Iolascon, A. Kulozik, R. Russo, 2021, American journal of hematology.

Hb Amsterdam [α32(B13)Met→Ile (α2)]: A New Unstable Variant Associated with an α-Thalassemia Phenotype and a New African Polymorphism

M. Vervloet, S. Zweegman, P. Giordano, 2005 .

The first report of hemoglobin E in combination with the highly unstable alpha‐globin variant Hb Adana: The importance of molecular confirmation

C. Harteveld, S. Arkesteijn, E. D. de Grouw, 2019, International journal of laboratory hematology.

Two new β-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention

J. Traeger-Synodinos, E. Kanavakis, R. Galanello, 2009, Haematologica.

A remarkable case of HbH disease illustrates the relative contributions of the α-globin enhancers to gene expression.

D. Downes, D. Higgs, C. Fisher, 2020, Blood.

A roadmap for the standardization of hemoglobin A2.

Renata Paleari, Andrea Mosca, Cornelis L Harteveld, 2020, Clinica chimica acta; international journal of clinical chemistry.

Calibration by commutable control materials is able to reduce inter-method differences of current high-performance methods for HbA2.

A. Mosca, R. Paleari, F. Ceriotti, 2018, Clinica chimica acta; international journal of clinical chemistry.

Hb Bleuland [α108(G15)Thr→Asn, ACC→AAC (α2)]: A New Abnormal Hemoglobin Associated with a Mild α-Thalassemia Phenotype

F. Versteegh, P. Giordano, C. Harteveld, 2006 .

Hb GROENE HART: A NEW Pro→Ser AMINO ACID SUBSTITUTION AT POSITION 119 OF THE α1-GLOBIN CHAIN IS ASSOCIATED WITH A MILD α-THALASSEMIA PHENOTYPE

F. Versteegh, H. Wajcman, J. Kister, 2002 .

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.

F. Versteegh, H. Wajcman, J. Kister, 2002, Hemoglobin.

Beta thalassaemia intermedia due to co‐inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis

D. Higgs, A. Drousiotou, S. Thein, 2018, British journal of haematology.

Hemoglobinopathy screening in primary care in the Netherlands: exploring the problems and needs of patients and general practitioners

C. Harteveld, E. Houwink, J. Kerkhoffs, 2022, European Journal of Human Genetics.

Hemoglobinopathy prevention in primary care: a reflection of underdetection and difficulties with accessibility of medical care, a quantitative study

C. Harteveld, E. Houwink, J. Kerkhoffs, 2022, European Journal of Human Genetics.

EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies

J. Traeger-Synodinos, S. Henderson, R. Galanello, 2014, European Journal of Human Genetics.

Two New α1-Globin Gene Point Mutations: Hb Nedlands (HBA1:c.86C>T) [α28(B9)Ala→Val] and Hb Queens Park (HBA1:c.98T>A) [α32(B13)Met→Lys]

P. Giordano, C. Harteveld, M. Phylipsen, 2010, Hemoglobin.

Refinement of the genetic cause of ATR-16

S. White, M. Kriek, E. Bijlsma, 2007, Human Genetics.

Nine Unknown Rearrangements in 16p13.3 and 11p15.4 causing α- and β-Thalassemia characterized by High Resolution Multiplex Ligation-Dependent Probe Amplification. Short title for Running Head: Characterization of Thalassemia Deletions by MLPA

S. White, P. Giordano, C. Harteveld, 2005 .

An Overview of Current Microarray-Based Human Globin Gene Mutation Detection Methods

G. Patrinos, M. Ferrari, J. Traeger-Synodinos, 2007, Hemoglobin.

β-Globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays

J. T. Dunnen, I. Fokkema, D. Roos, 2004, European Journal of Human Genetics.

An α‐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 α2‐Globin Gene

P. Wijermans, P. Giordano, C. Harteveld, 2004 .

α‐thalassaemia masked by β gene defects and a new polyadenylation site mutation on the α2‐globin gene

P. Giordano, C. Harteveld, C. Schoenmakers, 2010, European journal of haematology.

Hb Lepore-Leiden: A New δ/β Rearrangement Associated with a β-Thalassemia Minor Phenotype

P. Giordano, C. Harteveld, J. Kerkhoffs, 2008, Hemoglobin.

Broader Spectrum of β-Thalassemia Mutations in Oman: Regional Distribution and Comparison with Neighboring Countries

E. Bakker, P. Giordano, C. Harteveld, 2015, Hemoglobin.

Estimating the attitude of immigrants toward primary prevention of the hemoglobinopathies

P. Giordano, C. Harteveld, A. A. Dihal, 2005, Prenatal diagnosis.

Summary of Joint European Hematology Association (EHA) and EuroBloodNet Recommendations on Diagnosis and Treatment of Methemoglobinemia

A. Iolascon, A. Kulozik, R. Russo, 2021, HemaSphere.

FETAL DNA ANALYSIS

J. Traeger-Synodinos, R. Galanello, M. Angastiniotis, 2012 .

Known and New δ-Globin Gene Mutations and Other Factors Influencing Hb A2 Measurement in the Omani Population

E. Bakker, P. Giordano, C. Harteveld, 2014, Hemoglobin.

Hb Oegstgeest [α104(G11)Cys → Ser (α1)]. A New Hemoglobin Variant Associated with a Mild α-Thalassemia Phenotype

N. Blom, L. Rozendaal, P. Giordano, 2005, Hemoglobin.

EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies

J. Traeger-Synodinos, S. Henderson, R. Galanello, 2015, European Journal of Human Genetics.

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

P. Giordano, C. Harteveld, M. Bouva, 2004, Hemoglobin.

Evaluation of the suitability of the World Health Organization International Reference Reagent for Hb A2 quantitation (89/666) for continued use

K. Hyde, C. Harteveld, A. Stephens, 2019, International Journal of Laboratory Hematology.

Further evaluation of the world health organization international reference reagent for Haemoglobin A2 measurement

C. Harteveld, B. Wild, B. J. De La Salle, 2020, International journal of laboratory hematology.

Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T], A Second and Third Case Described in Two Unrelated Dutch Families

C. Harteveld, K. Pondman, H. M. van der Straaten, 2018, Hemoglobin.

Hb DELFZICHT [α9(A7)Asn→Lys (α1)]: A NEW, CLINICALLY SILENT HEMOGLOBIN VARIANT OBSERVED IN A DUTCH PATIENT

H. Wajcman, P. Giordano, C. Harteveld, 2002 .

α-thalassaemia

D. Higgs, C. Harteveld, 2010, Orphanet Journal of Rare Diseases.

Novel 112 kb (εGγAγ) δβ‐thalassaemia deletion in a Dutch family

P. Fraser, C. Osborne, M. Peters, 2003 .

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)

J. Knijnenburg, C. Harteveld, F. Dutly, 2020, Hemoglobin.

A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW)).

P. Giordano, C. Harteveld, M. Phylipsen, 2010, Blood cells, molecules & diseases.

Hereditary persistence of fetal hemoglobin in two patients with KLF1 haploinsufficiency due to 19p13.2–p13.12/13 deletion

S. Philipsen, N. Gillemans, C. Harteveld, 2017, American journal of hematology.

Adult‐onset beta‐thalassaemia intermedia caused by a 5‐Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β‐globin locus

C. Ruivenkamp, E. Kanavakis, J. Traeger-Synodinos, 2019, British journal of haematology.

A new polyadenylation site mutation associated with a mild beta-thalassemia phenotype.

M. Kappers-Klunne, P. Giordano, C. Harteveld, 2005, Haematologica.

Relationship between neonatal screening results by HPLC and the number of α-thalassaemia gene mutations; consequences for the cut-off value

L. Elvers, R. Galanello, L. Perseu, 2011, Journal of medical screening.

A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma.

E. Bakker, N. van der Stoep, E. Boon, 2015, The Journal of molecular diagnostics : JMD.

ATR-16 syndrome: mechanisms linking monosomy to phenotype

A. Wilkie, D. Higgs, J. Traeger-Synodinos, 2020, Journal of Medical Genetics.

Molecular basis of α-thalassemia.

S. Farashi, C. Harteveld, 2017, Blood cells, molecules & diseases.

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

M. Gallivan, P. Giordano, C. Harteveld, 2011, International journal of laboratory hematology.

An Unusual Compound Heterozygosity for Hb O-Arab (HBB: c.364G>A) and Hb D-Los Angeles (HBB: c.364G>C)

A. V. van Gammeren, C. Harteveld, L. Pelkmans, 2020, Hemoglobin.

Newborn screening for hemoglobinopathies using capillary electrophoresis technology: Testing the Capillarys Neonat Fast Hb device.

E. Mantikou, P. Giordano, C. Harteveld, 2010, Clinical biochemistry.

BEST PRACTICE RECOMMENDATIONS

M. Angastiniotis, M. Petrou, C. Harteveld, 2012 .