ISLH – International Society Laboratory Hematology No dia 09 de

ISLH – International Society Laboratory Hematology
A Sociedade Internacional de Hematologia Laboratorial (ISLH) foi fundada
em 1992 por um grupo de profissionais da área laboratorial para mapear novas
direções na hematologia laboratorial.
Sua origem vem da reunião do “Technical Innovations in Laboratory
Hematology” em 1984, em Lake Louise, Alberta Canadá.
A revista “Laboratory Hematology” foi indexada em 2003.
A Sociedade está com mais de 700 participantes em 50 países nos EUA,
Europa e Ásia e nesse ano na primeira vez no Brasil através da ABHH no
HEMO 2012 no Rio de Janeiro.
O ISLH tem desenvolvido padronizações (Standards) e diretrizes
(Guideliness) para a hematologia laboratorial, como exemplos recentes: os
métodos de referencia para contagem de plaquetas, estabelecimento de
critérios para automação em hemograma e avaliação de laminas.
Sua aproximação com o ICSH (International Committee for Standardization in
Hematology) tem trazido a bagagem técnica necessária para consolidar o
conhecimento na área.
As áreas de disseminação de novas idéias e estudos através de simpósios,
pesquisas e revisões em revistas são;
Analise celular
Citometria de Fluxo
Hemostasia e Trombose
Diagnóstico molecular
Informática em hematologia
Hemoglobinopatia
Anemias hemolíticas
Testes laboratoriais remotos (point of care)
Padronizações e Diretrizes (Standards and Guidelines)
No dia 09 de Novembro de 2012 durante o HEMO 2012
acontecerá “The Best of ISLH’”, no qual das 8:30h às 18:00h
teremos 10 experts em Hematologia Laboratorial palestrando pela
primeira vez no Brasil.
 Oportunidade impar de ampliar conhecimentos e
estreitarmos relacionamentos internacionais.
ISLH no
Brasil
Palestrantes confirmados e temas que serão abordados:
Charles Eby (USA)
Update on monitoring antithrombotic therapies- focus on oral
direct thrombin and factor Xa inhibitors
Catherine Hayward (Canada)
Laboratory evaluation of selected disorders of platelets and von
Willebrand factor
Maria Protecheva (USA)
Laboratory Hematology standards-contributions from ICSH
Brent Wood (USA)
Flow cytometry applications in malignant hematology
Marciano Reis (USA)
Flow cytometry application to diagnosis of red cell disorders
LoAnn Peterson (USA)
Diagnostic advances in lymphoid malignancies
Tracy George (USA)
Diagnosis and monitoring of myeloproliferative disorders
Alexander Kohlmann (Germany)
Genomics of hematologic malignancies
C. Harteveld (Netherlands)
Advances in diagnosis of Thalassemias and Hemoglobinopathies
Dorine Swinkels (Netherlands)
Utility of hepcidin concentration and automated red cell analysis to
diagnose anemia of chronic disease
Mini Currículos
Pesquisados na Internet:
Charles Eby; MD, United States
Update on monitoring antithrombotic therapies- focus on
oral direct thrombin and factor Xa inhibitors.
Was educated at the following institutions: Medical School in Vanderbilt
University (1981).
Member of Barnes-Jewish Hospital Credentialing and Health Information
Management Committees. Associate Director of Educational Programs,
medicine professor in Pathology and Immunology, Division of Laboratory
Medicine and Associate Chief on Divison of Laboratory and Genomic Medicine.
Expert in diagnosis and management of bleeding and clotting disorders.
E-mail: [email protected]
Researchs
Determination of genetic contributions to the variability of warfarin dosing
through analysis of SNPs in cytochrome 2C9, VKOR, and coagulation factors
VII and II genes.
Evaluation of protein and molecular risk factors for venous thromboembolic
events.
Study of acquired functional iron deficiency in cancer patients receiving
recombinant erythropoietin.
Selected Publications
External quality assurance of antithrombin, protein C, and protein s assays:
results of the College of American Pathologists proficiency testing program in
thrombophilia. Cunningham MT, Olson JD, Chandler WL, Van Cott EM, Eby CS,
Teruya J, Hollensead SC, Adcock DM, Allison PM, Kottke-Marchant KK, Smith
MD.
Intra-individual variability in serum hepcidin precludes its use as a marker of
iron status in hemodialysis patients. Ford BA, Eby CS, Scott MG, Coyne DW.
Kidney Int. 2010 Oct;78(8):769-73. Epub 2010 Jul 28.
Interactive modeling for ongoing utility of pharmacogenetic diagnostic
testing: application for warfarin therapy. Linder MW, Bon Homme M, Reynolds
KK, Gage BF, Eby C, Silvestrov N, Valdes R Jr. Clin Chem. 2009
Oct;55(10):1861-8. Epub 2009 Aug 13.
Loss of factor VIII and von Willebrand factor activities during cold storage
of whole blood is reversed by rewarming. Refaai MA, Van Cott EM, Lukoszyk
M, Hughes J, Eby CS. Lab Hematol. 2006;12(2):99-102.
Transfusion Medicine Service Policies for Recombinant Factor VIIa
Administration. Goodnough LT, Lublin DM, Zhang L, Despotis G, Eby C..
Transfusion 44:1325-1331, 2004.
The Genetics of Vitamin K Antagonists (News and Commentary). Gage BF, Eby
CS. Pharmacogenomics J 2004 (Epub ahead of print), 2004.
Use of Pharmacogenetics and Clinical Factors to Predict the Maintenance
Dose of Warfarin . Gage BF, Eby C, Banet GA, Milligan PE, McLeod HL.Thromb
Haemost 91:87-94, 2004.
Pharmacogenetis and Anticoagulant Therapy. Gage BF, Eby CS. J Thromb
Thrombolysis 16:73-78, 2003.
Lamellar Body Count in Amniotic Fluid: A Comparative Study of Four Different
Hematology Analyzers. Szallasi A, Gronowski AM, Eby CS.. Clin Chem 49:994997, 2003.
Catherine P. M. Hayward, MD, PhD, FRCPC , Canada
Laboratory evaluation of selected disorders of platelets
and von Willebrand factor.
Was educated at the following institutions: Ph.D. (Gold Medalist) Medical
Sciences, McMaster University, 1995
M.D. University of Western Ontario, 1984
B.Sc. Biology, University of Western Ontario, 1980
Associate Member in Department of Medicine, Faculty of Health Sciences
Research Council, Pathology and Molecular Medicine Professor.
Expert in Head, Coagulation, Hamilton Regional Laboratory Medicine.
Email: [email protected]
Website: www.fhs.mcmaster.ca/path
Researchs
The emphasis of our research is on conducting bench to bedside studies of
molecules important to blood clotting and vascular repair.
Our studies include investigations of a new protein discovered in our
laboratory, named multimerin 1, that functions as an adhesive protein in blood
and blood vessels, and as a binding protein for coagulation factor V.
Other studies target the formation and functions of platelets and
megakaryocytes, including how they are altered by disease.
In conjunction with the Transfusion Research Program at McMaster
University, and clinical services in the hospital, we are developing clinical
history assessment tools to evaluate bleeding disorders, and are investigating
causes of bleeding problems and platelet disorders.
A condition known as the Quebec Platelet Disorder, was first described by
our group. It is the first bleeding disorder associated with increased
urokinase-type plasminogen activator, and we are now investigating its genetic
cause and how it causes bleeding.
Selected Publications
Congenital platelet disorders: overview of their mechanisms, diagnostic
evaluation and treatment. In, State of the Art. XXVII International Congress
of the World Federation of Hemophilia. Hayward CPM, Rao AK, Cattaneo M.
Vancouver, Canada, 21-25 May 2006. Edited by Lee CA, Kessler CM.
Haemophilia 2006;12 (Suppl 3):128-136.
Analyses of cellular multimerin 1 receptors: in vitro evidence of binding
mediated by alpha IIb beta 3 and alpha v beta 3.Adam F, Zheng S, Joshi N,
Kelton DS, Sandhu A, Suehiro Y, Jeimy S, Santos AV, Massé J-M, Kelton JG,
Cramer EM, Hayward CPM. Thromb Haemost 2005;94;1004-1011.
Human platelets contain forms of factor V in disulfide-linkage with
multimerin. Hayward CPM, Fuller N, Zheng S, Adam F, Jeimy S, Horsewood I,
Quinn-Allen MA, Kane WH. Thromb Haemost 2004;92:1349-1357.
Identification of the multimerin 1 binding region within the C2 domain of
human factor V. Jeimy SB, Woram RA, Fuller N, Quinn-Allen MA, Nicolaes
GAF, Dahlbäck B, Kane WH, Hayward CPM. J Biol Chem 2004;279:5146651471.
Bleeding risks associated with inheritance of the Quebec platelet disorder.
McKay H, Derome F, Haq MA, Whittaker S, Arnold E, Adam F, Heddle N,
Rivard GE, Hayward CPM. Blood 2004;104:159-165.
Platelets from patients with the Quebec platelet disorder contain and secrete
abnormal amounts of urokinase-type plasminogen activator. Kahr WH, Zheng
S, Sheth P, Pai M, Cowie A, Bouchard M, Podor TJ, Rivard GE, Hayward CPM.
Blood 2001;98:257-265. Plenary Paper.
The cDNA sequence of human endothelial cell multimerin: A unique protein
with RGDS, coiled-coil, and EGF-like domains, and a carboxyl terminus similar
to the globular domain of complement C1q and collagens type VIII and X.
Hayward CPM, Hassell J, Denomme G, Rachubinski R, Brown C, Kelton JG. J
Biol Chem 1995;270:18246-18251.
Maria Proytcheva, MD, Arizona (USA)
Laboratory Hematology standards-contributions from ICSH.
Was appointed Medical Director Laboratory / Associate Professor in
Pathology on March 5, 2012, and is responsible for the overall operation,
leadership, direction, and administration of the Clinical Laboratory at UMC.
Dr. Proytcheva completed her training program at the Albert Einstein College
of Medicine; was followed by a Hematology Fellowship at Cornell University,
and then a Blood Bank Transfusion Medicine Fellowship at Yale University
School of Medicine.
She holds a primary certificate from the American Board of Pathology in
Anatomic and Clinical Pathology and subspecialty certification in Hematology,
Blood Bank and Transfusion Medicine. Since 2003, she was appointed
Assistant Professor at Northwestern University Feinberg School of Medicine
in the Department of Pathology.
Her recent areas of service were Director of Hematology Laboratories,
Director of Hematopathology, and Director of the Residency Program
Pediatric Pathology at Children’s Memorial Hospital, Chicago, IL.
Email: [email protected]
Selected Publications:
Successful collection and engraftment of autologous peripheral blood
progenitor cells in poorly mobilized patients receiving high-dose granulocyte
colony-stimulating factor. Cooper DL, Proytcheva M, Medoff E, Seropian SE,
Snyder EL, Krause DS, Wu Y. J Clin Apher. 2012 May 7.
Juvenile myelomonocytic leukemia. Proytcheva M. Semin Diagn Pathol. 2011
Nov;28(4):298-303. Review.
Serum neopterin levels as a diagnostic marker of hemophagocytic
lymphohistiocytosis syndrome. Ibarra MF, Klein-Gitelman M, Morgan E,
Proytcheva M, Sullivan C, Morgan G, Pachman LM, O'Gorman MR.
Clin Vaccine Immunol. 2011 Apr;18(4):609-14.
Professional quality assurance in laboratory medicine: what about the
competency of laboratory directors? Laposata M, Proytcheva MA, Rutledge
JC, Stratton CW. Am J Clin Pathol. 2010 Nov;134(5):706-8.
Clinicopathologic features of histiocytic lesions following ALL, with a review
of the literature. Castro EC, Blazquez C, Boyd J, Correa H, de Chadarevian JP,
Felgar RE, Graf N, Levy N, Lowe EJ, Manning JT Jr, Proytcheva MA, Senger
C, Shayan K, Sterba J, Werner A, Surti U, Jaffe R. Pediatr Dev Pathol. 2010
May-Jun;13(3):225-37. Review.
Issues in neonatal cellular analysis. Proytcheva MA. Am J Clin Pathol. 2009
Apr;131(4):560-73. Review.
Dr. Brent L. Wood, MD, PhD, United States
Flow cytometry applications in malignant hematology.
Was educated at the following institutions in Medical School-Loma Linda
University (1990), PhD in Biochemistry in Loma Linda University (1988).
Dr. Wood practices hematology and clinical pathology & anatomic pathology in
Seattle, Washington. University Of Washington Medical Ctr., Seattle Cancer
Care Alliance, Eastlake Ave E. and Harborview Medical Center.
Has obtained board certification from the member board for Pathology Hematology and Anatomic Pathology & Clinical Pathology.
Expertise in hematopathology and flow cytometry. Medical Director of SCCA
Laboratories, Director of Hematopathology and Pathology Laboratories,
University of Seattle, EUA.
Email: [email protected]
Selected Publications:
Adoptive Immunotherapy For Indolent Non-Hodgkin Lymphoma And Mantle
Cell Lymphoma Using Genetically Modified Autologous CD20-specific T Cells.
Journal: Blood
Depressive Symptoms In Children With Cystic Fibrosis And Parents And Its
Effects On Adherence To Airway Clearance. Pediatric Pulmonology; February
2011.
Evaluation Of An 8-color Flow Cytometric Reference Method For White Blood
Cell Differential Enumeration. Cytometry. Part B, Clinical Cytometry; February
2011.
Immaturity Associated Antigens Are Lost During Induction For T Cell
Lymphoblastic Leukemia: Implications For Minimal Residual Disease Detection.
Cytometry. Part B, Clinical Cytometry; November 2010.
"Double-Hit" Mature B-cell Lymphomas Show A Common Immunophenotype By
Flow Cytometry That Includes Decreased CD20 Expression. American Journal
Of Clinical Pathology; August 2010.
Myeloablative Irradiation In Non-human Primates. Journal Of Medical
Primatology; January 2010.
A Yearlong Exercise Intervention Decreases CRP Among Obese
Postmenopausal Women. Medicine And Science In Sports And Exercise;
November 2009.
Flow Cytometry Can Diagnose Classical Hodgkin Lymphoma In Lymph Nodes
With High Sensitivity And Specificity. American Journal Of Clinical
Pathology; March 2009.
2006 Bethesda International Consensus Recommendations On The
Immunophenotypic Analysis Of Hematolymphoid Neoplasia By Flow Cytometry:
Optimal Reagents And Reporting For The Flow Cytometric Diagnosis Of
Hematopoietic Neoplasia. Cytometry. Part B, Clinical Cytometry; July 2008.
Marciano Reis, M.D., FRCPC , Canada
Flow cytometry application to diagnosis of red cell disorders.
Was educated at the following institutions in Medical School in Federal
University of Paraná, Curitiba, Paraná, Brazil (1976).
Hematologist Chief in Department of Laboratory Hematology University
Health Network. Chief, Departments of Clinical Pathology- Sunnybrook Health
Sciences Centre and Women’s College Hospital. Chief in Clinical PathologySunnybrook Health Sciences Centre- and in Clinical Pathology- Women’s
College Hospital. Associate Professor, departments of Laboratory Medicine
and Pathobiology and Medicine, U. of Toronto
Email: [email protected]
Researchs
Molecular genetics, especially applied to lymphomagenics: Enumeration and
processing of hematopoietic stem cells for therapeutic use; Patient safety in
transfusion medicine, through the analysis of medical errors/events in
transfusion medicine and the search for solutions to eliminate or greatly
reduce these anomalies.
Selected Publications
Clinical utility of flow cytometry in the study of erythropoiesis and nonclonal
red cell disorders. Chesney A, Good D, Reis M. Methods Cell Biol. 103:311-32,
2011. Review.
Recombinant factor VIIa is associated with an improved 24-hour survival
without an improvement in inpatient survival in massively transfused civilian
trauma patients. Nascimento B, Lin Y, Callum J, Reis M, Pinto R, Rizoli S.
Clinics (Sao Paulo). 66(1):101-6, 2011.
Postvaccination hyperhemolysis coinciding with remission of Epstein Barr virus
(EBV)-associated immune thrombocytopenic purpura (ITP). Cserti-Gazdewich
CM, Pendergrast JM, Reis M. Am J Hematol. Sep;84(9):612-3, 2009.
Estimating the prevalence of myelodysplastic syndromes in patients with
unexplained cytopenias: a retrospective study of 322 bone marrows. Buckstein
R, Jang K, Friedlich J, Zhang L, Reis M, Chesney A, Wells RA.
Leuk Res. Oct;33(10):1313-8. Epub 2009 Mar 17, 2009.
LoAnn C Peterson, MD , United States
Diagnostic advances in lymphoid malignancies.
Was educated at the following institutions in Medical University of
Minnesota, Twin Cities (1971).
Expertise in Chromosome Aberrations; Chronic B-Cell Lymphocytic Leukemia;
Hairy Cell Leukemia; Mantle-Cell Lymphoma Non-Hodgkin Lymphoma.
Selected Publications
Nuclear expression of sox11 is highly associated with mantle cell lymphoma
but is independent of t(11;14)(q13;q32) in non-mantle cell B-cell neoplasms.
Chen YH, Gao J, Fan G, Peterson LC. Mod Pathol. 2010 Jan;23(1):105-12. Epub
2009 Oct 2.
Primary mediastinal large B-cell lymphoma in HIV: report of two cases.
Kelemen K, Cao W, Peterson LC, Evens AM, Variakojis D. J Hematop. 2009
Mar;2(1):45-9. Epub 2009 Feb 28.
CD23+ mantle cell lymphoma: a clinical pathologic entity associated with
superior outcome compared with CD23- disease. American journal of clinical
pathology. August 2008.
Instability of immunophenotype in plasma cell myeloma. American journal of
clinical pathology. July 2008.
The usefulness of CD26 in flow cytometric analysis of peripheral blood in
Sézary syndrome. American journal of clinical pathology. January 2008.
Tracy George, MD. , United States
Diagnosis and monitoring of myeloproliferative disorders.
She completed her fellowship in hematopathology in 2001 at Stanford
University and her residency in anatomic and clinical pathology in 2000 at the
University of California, San Francisco. She received her MD in 1995, also
from UCSF. Her professional affiliations include the Society for
Hematopathology, the College of American Pathologists, the American Society
of Clinical Pathologists, the American Society of Hematology, the United
States and Canadian Academy of Pathology, and the International Society for
Laboratory Hematology. In her spare time, she volunteers with Kappa Alpha
Theta and serves as a board member of New Century Chamber Orchestra.
Assistant Professor of Pathology at Stanford University, has been recognized
by Cambridge Who's Who for demonstrating dedication, leadership and
excellence in medical research.
Email: [email protected]
Selected Publications
Immunophenotypic analysis of myeloperoxidase-negative leukemia cutis and
blastic plasmacytoid dendritic cell neoplasm. Danielle M P Cronin; Tracy I
George; Kaaren K Reichard; Uma N Sundram. American journal of clinical
pathology 2012;137(3):367-76.
Systemic mastocytosis. Tracy I George; Hans-Peter Horny
Hematology/oncology clinics of North America 2011;25(5):1067-83, vii.
Evaluation of the Beckman Coulter UniCel DxH 800, Beckman Coulter LH 780,
and Abbott Diagnostics Cell-Dyn Sapphire hematology analyzers on adult
specimens in a tertiary care hospital. Brent T Tan; Armando J Nava; Tracy I
George. American journal of clinical pathology 2011;135(6):939-51.
Evaluation of the Beckman Coulter UniCel DxH 800 and Abbott Diagnostics
Cell-Dyn Sapphire hematology analyzers on pediatric and neonatal specimens
in a tertiary care hospital. Brent T Tan; Armando J Nava; Tracy I George.
American journal of clinical pathology 2011;135(6):929-38.
Standards and impact of hematopathology in myelodysplastic syndromes
(MDS). Peter Valent; Attilio Orazi; Guntram Büsche; Annette Schmitt-Gräff;
Tracy I George; Karl Sotlar; Berthold Streubel; Christine Beham-Schmid;
Sabine Cerny-Reiterer; Otto Krieger; et al. Oncotarget 2010;1(7):483-96.
Phenotypic heterogeneity, novel diagnostic markers, and target expression
profiles in normal and neoplastic human mast cells. Peter Valent; Sabine
Cerny-Reiterer; Harald Herrmann; Irina Mirkina; Tracy I George; Karl Sotlar;
Wolfgang R Sperr; Hans-Peter Horny. Best practice & research. Clinical
haematology 2010;23(3):369-78.
The classification of systemic mastocytosis should include mast cell leukemia
(MCL) and systemic mastocytosis with a clonal hematologic non-mast cell
lineage disease (SM-AHNMD). Peter Valent; Michel Arock; Cem Akin;
Wolfgang R Sperr; Andreas Reiter; Karl Sotlar; Karin Hartmann; Tracy I
George; Knut Brockow; Hanneke C Kluin-Nelemans; et al. Blood
2010;116(5):850-1.
Myelomastocytic leukemia versus mast cell leukemia versus systemic
mastocytosis associated with acute myeloid leukemia: a diagnostic challenge.
Angela R Arredondo; Jason Gotlib; Luke Shier; Bruno Medeiros; Kathleen
Wong; Athena Cherry; Christopher Corless; Daniel A Arber; Peter Valent;
Tracy I George. American journal of hematology 2010;85(8):600-6.
Can cytoplasmic nucleophosmin be detected by immunocytochemical staining
of cell smears in acute myeloid leukemia? Göran Mattsson; Susan H Turner;
Jacqueline Cordell; David J P Ferguson; Anna Schuh; Lizz F Grimwade;
Anthony J Bench; Olga K Weinberg; Teresa Marafioti; Tracy I George; et al.
Haematologica 2010;95(4):670-3.
When yellow jackets attack: recurrent and severe anaphylactic reactions to
insect bites and stings. Daniel A Pollyea; Tracy I George; Christopher Corless;
Jason Gotlib. American journal of hematology 2009;84(12):843-6.
Alexander Kohlmann,PhD., Germany
Genomics of hematologic malignancies.
PhD in leukemia research, Ludwig-Maximilian-University, Munich, 2004
Undergraduate degree in biology, University of Würzburg, Germany, 2001
Alexander Kohlmann obtained his doctoral degree at the Ludwig-MaximiliansUniversity in Munich, Germany, in 2000.
Research alliance manager, Roche Molecular Systems, Pleasanton, Calif.; Roche
Diagnostics, Penzberg; and Roche Diagnostics, Rotkreuz, Switzerland, 20052008. Head of next-generation sequencing and microarray department, MLL
Münchner Leukämielabor, since 2008.
He has been working on the molecular characterization of leukemias using
microarray technology. Currently, he is a group leader at the MLL, Munich
Leukemia Laboratory
Email: [email protected]
Selected Publications
Molecular analyses of 15,542 patients with suspected BCR-ABL1-negative
myeloproliferative disorders allow to develop a stepwise diagnostic workflow.
Schnittger S, Bacher U, Eder C, Dicker F, Alpermann T, Grossmann V,
Kohlmann A, Kern W, Haferlach C, Haferlach T. Haematologica. 2012 Apr 17.
SNP array analysis of acute promyelocytic leukemia may be of prognostic
relevance and identifies a potential high risk group with recurrent deletions
on chromosomal subband 1q31.3. Nowak D, Klaumuenzer M, Hanfstein B,
Mossner M, Nolte F, Nowak V, Oblaender J, Hecht A, Hütter G, Ogawa S,
Kohlmann A, Haferlach C, Schlegelberger B, Braess J, Seifarth W, Fabarius
A, Erben P, Saussele S, Müller MC, Reiter A, Buechner T, Weiss C, Hofmann
WK, Lengfelder E. Genes Chromosomes Cancer. 2012 Apr 9.
Multilineage dysplasia does not influence prognosis in CEBPA-mutated AML
supporting the WHO proposal to classify these patients as unique entity.
Bacher U, Schnittger S, Macijewski K, Grossmann V, Kohlmann A, Alpermann
T, Kowarsch A, Nadarajah N, Kern W, Haferlach C, Haferlach T.
Blood. 2012 Mar 22
Integration of next-generation sequencing into clinical practice: are we there
yet? Kohlmann A, Grossmann V, Haferlach T. Semin Oncol. 2012 Feb;39(1):2636. Review.
EZH2 mutations and their association with PICALM-MLLT10 positive acute
leukaemia. Grossmann V, Bacher U, Kohlmann A, Artusi V, Klein HU, Dugas M,
Schnittger S, Alpermann T, Kern W, Haferlach T, Haferlach C.
Br J Haematol. 2012 May;157(3):387-90
The corepressors BCOR and BCORL1: two novel players in acute myeloid
leukemia. Tiacci E, Grossmann V, Martelli MP, Kohlmann A, Haferlach T, Falini
B. Haematologica. 2012 Jan;97(1):3-5.
Gene expression of BAALC, CDKN1B, ERG, and MN1 adds independent
prognostic information to cytogenetics and molecular mutations in adult acute
myeloid leukemia. Haferlach C, Kern W, Schindela S, Kohlmann A, Alpermann
T, Schnittger S, Haferlach T. Genes Chromosomes Cancer. 2012
Mar;51(3):257-65.
C. Harteveld, PhD. Netherlands
Advances in diagnosis of Thalassemias and
Hemoglobinopathies.
Clinical molecular and biochemical geneticist.
Advances in diagnosis of Thalassemias and Hemoglobinopathies. Principle areas
of research and diagnostics are phenotype-genotype correlation of
hemoglobinopathies and the technical improvement of diagnostics. He is
responsible for the diagnosis of carriers and patients and for prenatal
diagnosis for thalassemia Major and Sickle Cell disease in the Dutch
Reference Laboratory for Hemoglobinopathies within the department of
Human and Clinical Genetics at the Leiden University Medical Center in Leiden.
Email: [email protected]
Selected Publications
Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease
using pyrophosphorolysis-activated polymerization and melting curve analysis.
Phylipsen M, Yamsri S, Treffers EE, Jansen DT, Kanhai WA, Boon EM,
Giordano PC, Fucharoen S, Bakker E, Harteveld CL. Prenat Diagn. 2012 Apr
20:1-10.
Hb Haaglanden: a new nonsickling β7Glu>Val variant. Consequences for basic
diagnostics, screening, and risk assessment when dealing with HbS-like
variants. Harteveld CL, Ponjee G, Bakker-Verweij M, Arkesteijn SG, Phylipsen
M, Giordano PC. Int J Lab Hematol. 2012 Apr 11.
A novel α(0) -thalassemia deletion in a Greek patient with HbH disease and βthalassemia trait. 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. Eur J Haematol. 2012 Apr;88(4):356-62
A novel α(0) -thalassemia deletion in a Greek patient with HbH disease and βthalassemia trait. 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. Eur J Haematol. 2011 Dec 30.
Towards a prevention program for β-thalassemia. The molecular spectrum in
East Java, Indonesia. Hernanda PY, Tursilowati L, Arkesteijn SG, Ugrasena
ID, Larasati MC, Soeatmadji SM, Giordano PC, Harteveld CL.
Hemoglobin. 2012;36(1):1-6. Epub 2011 Dec 21.
Relationship between neonatal screening results by HPLC and the number of
α-thalassaemia gene mutations; consequences for the cut-off value. Bouva MJ,
Sollaino C, Perseu L, Galanello R, Giordano PC, Harteveld CL, Cnossen MH,
Schielen PC, Elvers LH, Peters M. J Med Screen. 2011;18(4):182-6.
Iron depletion: an ameliorating factor for sickle cell disease? Giordano PC,
Huisman W, Harteveld CL. ISRN Hematol. 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. 2012 Jan;33(1):272-80.
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, et. Al. 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.
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.
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.
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
Alpha-thalassaemia. Harteveld CL, Higgs DR. Orphanet J Rare Dis. 2010 May
28;5:13. Review.
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.
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.
Dorine Swinkels , Netherlands
Utility of hepcidin concentration and automated red cell
analysis to diagnose anemia of chronic disease.
Dorine Swinkels is a MD and chemist, specialized in clinical chemistry. Her
research aims at the full understanding of iron metabolism, in particular the
identification and characterization of novel factors that affect dysregulation
of iron homeostasis in various human disorders among which are some of the
world's most prevalent diseases such as anemia of chronic kidney disease,
hereditary hemochromatosis, inherited (iron loading) anemia's, bacterial and
malarial infections. New findings are translated into novel diagnostic assays
and therapeutic strategies that can be implemented in the clinic. Among her
(team's) most recent achievements and activities are the development and
harmonization of assays for the recently discovered iron regulatory hormone
peptide hepcidin that is currently subject of several translational studies.
Email: [email protected]
Selected Publications
Hepcidin in human iron disorders: diagnostic implications. Kroot JJ, Tjalsma
H, Fleming RE, Swinkels DW. Clin Chem. 2011 Dec;57(12): 1650-69 .
Serum hepcidin: reference ranges and biochemical correlates in the general
population. Galesloot TE, Vermeulen SH, Geurts-Moespot AJ, Klaver SM,
Kroot JJ, van Tienoven D, Wetzels JF, Kiemeney LA, Sweep FC, den Heijer M,
Swinkels DW. Blood. 2011 Jun 23;117(25):e218.
Diagnosis and management of hereditary haemochromatosis. Van Bokhoven
MA, van Deursen CT, Swinkels DW. BMJ. 2011 Jan 19;342:c7251 Review.
Immunochemical and mass-spectrometry-based serum hepcidin assays for iron
metabolism disorders. Kroot JJ, Laarakkers CM, Geurts-Moespot AJ,
Grebenchtchikov N, Pickkers P,van Ede AE, Peters HP, van Dongen-Lases E,
Wetzels JF, Sweep FC, Tjalsma H, Swinkels DW. Clin Chem. 2010.
Hepcidin suppression and defective iron recycling account for dysregulation
of iron homeostasis in heme oxygenase-1 deficiency. Kartikasari AE, Wagener
FA, Yachie A, Wiegerinck ET, Kemna EH, Swinkels DW. J Cell Mol Med. 2009
Sep;13(9B):3091-102.
The effects of carbohydrate ingestion during endurance running on postexercise inflammation and hepcidin levels. Marc Sim; Brian Dawson; Grant
Landers; Erwin T Wiegerinck; Dorine W Swinkels; Mary-Anne Townsend;
Debbie Trinder; Peter Peeling.
The effects of acute exercise bouts on hepcidin in women. Mia K Newlin; Sara
Williams; Tim McNamara; Harold Tjalsma; Dorine W Swinkels; Emily M
Haymes.
Candidate Gene Sequencing of SLC11A2 and TMPRSS6 in a Family with Severe
Anaemia: Common SNPs, Rare Haplotypes, No Causative Mutation. Anita KlossBrandstätter; Gertraud Erhart; Claudia Lamina; Bernhard Meister; Margot
Haun; Stefan Coassin; Markus Seifert; Andreas Klein-Franke; Bernhard
Paulweber; Lyudmyla Kedenko; et al.