Cornelis L. Harteveld
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View article: Hemoglobinopathy Prevalence and Under-Identification in Primary Care: Mixed-Methods Insights from a Diverse Population
Hemoglobinopathy Prevalence and Under-Identification in Primary Care: Mixed-Methods Insights from a Diverse Population Open
View article: Unusual Causes of β Thalassemia Trait: Discovery of another Three Novel <i>SUPT5H</i> Variants
Unusual Causes of β Thalassemia Trait: Discovery of another Three Novel <i>SUPT5H</i> Variants Open
Beta (β) thalassemia is an inherited disorder that occurs following mutations or deletions in the β globin gene. Rarely, it is caused by variants in genes coding for erythroid transcriptional factors or trans-acting factors. Here, we repor…
View article: Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions
Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions Open
Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood tr…
View article: Alpha Thalassemia Screening in Multiethnic Population in Northern Europe Using Hb Bart's Immunochromatographic Test
Alpha Thalassemia Screening in Multiethnic Population in Northern Europe Using Hb Bart's Immunochromatographic Test Open
Genetics of disease, diagnosis and treatment
View article: Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia
Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia Open
It is well known that modifiers play a role in ameliorating or exacerbating disease phenotypes in patients and carriers of recessively inherited disorders such as sickle cell disease and thalassemia. Here, we give an overview of the litera…
View article: Moderate–severe beta‐thalassemia intermedia phenotype caused by sextuplicated alpha‐globin gene allele in two beta‐thalassemia carriers
Moderate–severe beta‐thalassemia intermedia phenotype caused by sextuplicated alpha‐globin gene allele in two beta‐thalassemia carriers Open
Genetics of disease, diagnosis and treatment
View article: Submitting Novel Globin Gene Variants to Hemoglobin
Submitting Novel Globin Gene Variants to Hemoglobin Open
Submitting Novel Globin Gene Variants to HemoglobinIt is now customary to report genetic variants in genomewide and locus/disease-specific databases.Different databases have different features, which are quite useful to the scientific comm…
View article: A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies
A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies Open
Several types of haemoglobinopathies are caused by copy number variants (CNVs). While diagnosis is often based on haematological and biochemical parameters, a definitive diagnosis requires molecular DNA analysis. In some cases, the molecul…
View article: Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies Open
Haemoglobinopathies are the commonest monogenic diseases worldwide and are caused by variants in the globin gene clusters. With over 2400 variants detected to date, their interpretation using the American College of Medical Genetics and Ge…
View article: The hemoglobinopathies, molecular disease mechanisms and diagnostics
The hemoglobinopathies, molecular disease mechanisms and diagnostics Open
Hemoglobinopathies are the most common monogenic disorders in the world with an ever increasing global disease burden each year. As most hemoglobinopathies show recessive inheritance carriers are usually clinically silent. Programmes for p…
View article: Hemoglobinopathy screening in primary care in the Netherlands: exploring the problems and needs of patients and general practitioners
Hemoglobinopathy screening in primary care in the Netherlands: exploring the problems and needs of patients and general practitioners Open
The prevalence of hemoglobinopathies in The Netherlands is increasing due to migration. Hemoglobinopathies are severe hereditary diseases. An informed reproductive choice by at-risk couples, such as pre-implantation diagnosis or terminatio…
View article: Author response: Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies
Author response: Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies Open
Article Figures and data Abstract Editor's evaluation Introduction Results Discussion Materials and methods Data availability References Decision letter Author response Article and author information Metrics Abstract Haemoglobinopathies ar…
View article: Evaluation of <i>in silico</i> predictors on short nucleotide variants in <i>HBA1, HBA2</i> and <i>HBB</i> associated with haemoglobinopathies
Evaluation of <i>in silico</i> predictors on short nucleotide variants in <i>HBA1, HBA2</i> and <i>HBB</i> associated with haemoglobinopathies Open
Introduction Haemoglobinopathies are the commonest monogenic diseases worldwide and are caused by variants in the globin gene clusters. With over 2400 variants detected to date, their interpretation using the ACMG/AMP guidelines is challen…
View article: Hemoglobinopathy prevention in primary care: a reflection of underdetection and difficulties with accessibility of medical care, a quantitative study
Hemoglobinopathy prevention in primary care: a reflection of underdetection and difficulties with accessibility of medical care, a quantitative study Open
As in most Northern European countries, the prevalence of hemoglobinopathies in The Netherlands is increasing due to migration. Although hemoglobinopathies are severe chronic diseases with few treatment options, timely detection of carrier…
View article: Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel Open
Accurate and consistent interpretation of sequence variants is integral to the delivery of safe and reliable diagnostic genetic services. To standardize the interpretation process, in 2015, the American College of Medical Genetics and Geno…
View article: Recommendations for diagnosis and treatment of methemoglobinemia
Recommendations for diagnosis and treatment of methemoglobinemia Open
Methemoglobinemia is a rare disorder associated with oxidization of divalent ferro‐iron of hemoglobin (Hb) to ferri‐iron of methemoglobin (MetHb). Methemoglobinemia can result from either inherited or acquired processes. Acquired forms are…
View article: The Evolving Role of Next-Generation Sequencing in Screening and Diagnosis of Hemoglobinopathies
The Evolving Role of Next-Generation Sequencing in Screening and Diagnosis of Hemoglobinopathies Open
During the last few years, next-generation sequencing (NGS) has undergone a rapid transition from a research setting to a clinical application, becoming the method of choice in many clinical genetics laboratories for the detection of disea…
View article: Breakpoint characterization of a rare alpha<sup>0</sup>‐thalassemia deletion using targeted locus amplification on genomic DNA
Breakpoint characterization of a rare alpha<sup>0</sup>‐thalassemia deletion using targeted locus amplification on genomic DNA Open
Introduction The high‐sequence homology of the α‐globin‐gene cluster is responsible for microhomology‐mediated recombination events during meiosis, resulting in a high density of deletion breakpoints within a 10 kb region. Commonly used de…
View article: Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases
Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases Open
Unstable hemoglobinopathies (UHs) are rare anemia disorders (RADs) characterized by abnormal hemoglobin (Hb) variants with decreased stability. UHs are therefore easily precipitating, causing hemolysis and, in some cases, leading to domina…
View article: A Small Key for a Heavy Door: Genetic Therapies for the Treatment of Hemoglobinopathies
A Small Key for a Heavy Door: Genetic Therapies for the Treatment of Hemoglobinopathies Open
Throughout the past decades, the search for a treatment for severe hemoglobinopathies has gained increased interest within the scientific community. The discovery that ɤ-globin expression from intact HBG alleles complements defective HBB a…
View article: Cyanosis, hemolysis, decreased HbA1c and abnormal co-oximetry in a patient with hemoglobin M Saskatoon [HBB:c.190C > T p.His64Tyr]
Cyanosis, hemolysis, decreased HbA1c and abnormal co-oximetry in a patient with hemoglobin M Saskatoon [HBB:c.190C > T p.His64Tyr] Open
We describe a first Dutch case of Hb M Saskatoon (HBB:c.190C > T p.His64Tyr) in a 47-year-old female Dutch patient who presented with cyanosis, hemolysis, and abnormal co-oximetry. A mean corpuscular volume (MCV) of 105 fL caused by reticu…
View article: A remarkable case of HbH disease illustrates the relative contributions of the α-globin enhancers to gene expression
A remarkable case of HbH disease illustrates the relative contributions of the α-globin enhancers to gene expression Open
View article: A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H
A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H Open
Genetics of disease, diagnosis and treatment
View article: ATR-16 syndrome: mechanisms linking monosomy to phenotype
ATR-16 syndrome: mechanisms linking monosomy to phenotype Open
Background Deletions removing 100s–1000s kb of DNA, and variable numbers of poorly characterised genes, are often found in patients with a wide range of developmental abnormalities. In such cases, understanding the contribution of the dele…
View article: ATR16 Syndrome: Mechanisms Linking Monosomy to Phenotype
ATR16 Syndrome: Mechanisms Linking Monosomy to Phenotype Open
Background Sporadic deletions removing 100s-1000s kb of DNA, and variable numbers of poorly characterised genes, are often found in patients with a wide range of developmental abnormalities. In such cases, understanding the contribution of…
View article: Adult‐onset beta‐thalassaemia intermedia caused by a 5‐Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β‐globin locus
Adult‐onset beta‐thalassaemia intermedia caused by a 5‐Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β‐globin locus Open
Beta-thalassaemia major is amongst the most severe common monogenic diseases worldwide and, with few exceptions, is due to inheritance two defective beta-globin (HBB) genes in a Mendelian fashion. Heterozygous individuals, inheriting a sin…
View article: The first report of hemoglobin E in combination with the highly unstable alpha‐globin variant Hb Adana: The importance of molecular confirmation
The first report of hemoglobin E in combination with the highly unstable alpha‐globin variant Hb Adana: The importance of molecular confirmation Open
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View article: Diagnosis of Haemoglobinopathies: New Scientific Advances
Diagnosis of Haemoglobinopathies: New Scientific Advances Open
The molecular defects underlying haemoglobinopathies are both deletions and point mutations in the alpha- or beta-globin genes or gene-clusters. To detect point mutations causing alpha- or beta-thalassaemia, direct sequencing is the method…
View article: Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance
Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance Open
Sequence variants located in the introns of the β-globin gene may affect the mRNA processing and cause β-thalassemia (β-thal). Sequence variants that change one of the invariant dinucleotides at the exon-intron boundaries may have fatal co…
View article: Hb Nouakchott [α114(GH2)Pro→Leu;<i>HBA1</i>: c.344C>T], A Second and Third Case Described in Two Unrelated Dutch Families
Hb Nouakchott [α114(GH2)Pro→Leu;<i>HBA1</i>: c.344C>T], A Second and Third Case Described in Two Unrelated Dutch Families Open
We report two families, members of which are carriers of a hemoglobin (Hb) variant previously described as Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T; p.Pro115Leu]. In the first family of Dutch origin, the proband, a 32-year-old male …