Piero C Giordano

Piero C Giordano

Piero C Giordano

Piero C Giordano

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

Hemoglobin 2016 Sep 14;40(5):349-352. Epub 2016 Sep 14.

c Department of Pediatrics , Groene Hart Hospital , Gouda , the Netherlands.

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http://dx.doi.org/10.1080/03630269.2016.1210160DOI Listing
September 2016

Broader spectrum of β-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries.

Hemoglobin 2015 13;39(2):107-10. Epub 2015 Feb 13.

Molecular Genetic Laboratory, National Genetic Centre , Muscat , Sultanate of Oman and.

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http://dx.doi.org/10.3109/03630269.2015.1009632DOI Listing
January 2016

Hb Lansing (HBA2: c.264C > G) and a new β promoter transversion [-52 (G > T)]: an attempt to define the phenotype of two mutations found in the Omani population.

Hemoglobin 2015 31;39(2):111-4. Epub 2015 Mar 31.

Molecular Genetic Laboratory, National Genetic Centre , Muscat , Sultanate of Oman and.

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http://dx.doi.org/10.3109/03630269.2015.1016615DOI Listing
January 2016

Molecular spectrum of α-globin gene defects in the Omani population.

Hemoglobin 2014 5;38(6):422-6. Epub 2014 Nov 5.

Molecular Genetic Laboratory, National Genetic Centre , Muscat , Sultanate of Oman and.

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http://dx.doi.org/10.3109/03630269.2014.976414DOI Listing
July 2015

[Haemoglobinopathy in the 21st century: incidence, diagnosis and heel prick screening].

Ned Tijdschr Geneeskd 2014 ;158:A7365

Emma Kinderziekenhuis/AMC, afd. Kinderhematologie, Amsterdam.

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April 2015

Known and new δ-globin gene mutations and other factors influencing Hb A2 measurement in the Omani population.

Hemoglobin 2014 2;38(4):299-302. Epub 2014 Jul 2.

Molecular Genetic Laboratory, National Genetic Centre , Muscat , Sultanate of Oman .

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http://dx.doi.org/10.3109/03630269.2014.928308DOI Listing
March 2015

Genetic epidemiology and preventive healthcare in multiethnic societies: the hemoglobinopathies.

Int J Environ Res Public Health 2014 Jun 11;11(6):6136-46. Epub 2014 Jun 11.

Human and Clinical Genetics Department, Leiden University Medical Center, P.O. Box 9600, Leiden 2333 ZC, The Netherlands.

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http://dx.doi.org/10.3390/ijerph110606136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078570PMC
June 2014

Exploring the use of expanded erythroid cells for autologous transfusion for anemia of prematurity.

Transfusion 2013 Dec 22;53(12):3230-9. Epub 2013 Mar 22.

Department of Research, Sanquin Blood Bank, Leiden; Department of Immuno-Hematology and Blood Transfusion, Leiden University Medical Center, Leiden, The, Netherlands; Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The, Netherlands.

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http://dx.doi.org/10.1111/trf.12169DOI Listing
December 2013

Hb Treviso [α91(FG3)Leu→Phe (α2)]: a new slightly unstable hemoglobin variant with moderately decreased oxygen affinity.

Hemoglobin 2013 25;37(2):107-11. Epub 2013 Jan 25.

Medicina di Laboratorio, Ospedale di Treviso, Azienda ULSS N9, Treviso, Italia.

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http://dx.doi.org/10.3109/03630269.2012.759961DOI Listing
September 2013

Editorial: measurement of HbA2.

Authors:
Piero C Giordano

Int J Lab Hematol 2012 Aug 16;34(4):335. Epub 2012 Feb 16.

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http://dx.doi.org/10.1111/j.1751-553X.2012.01399.xDOI Listing
August 2012

Providing appropriate genetic information to healthy carriers of hemoglobinopathy can be a welcome and safe initiative: the Latium example.

Genet Test Mol Biomarkers 2012 Jul 25;16(7):734-8. Epub 2012 Jun 25.

Associazione Nazionale Microcitemie Italia (ANMI ONLUS), Centro Studi Microcitemie di Roma (CSMR), Rome, Italy.

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http://www.liebertpub.com/doi/10.1089/gtmb.2011.0290
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http://dx.doi.org/10.1089/gtmb.2011.0290DOI Listing
July 2012

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

Prenat Diagn 2012 Jun 20;32(6):578-87. Epub 2012 Apr 20.

Hemoglobinopathies Laboratory, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/pd.3864DOI Listing
June 2012

A novel α(0) -thalassemia deletion in a Greek patient with HbH disease and β-thalassemia trait.

Eur J Haematol 2012 Apr 11;88(4):356-62. Epub 2012 Feb 11.

Department of Human and Clinical Genetics, Hemoglobinopathies Laboratory, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1111/j.1600-0609.2012.01748.xDOI Listing
April 2012

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

Hum Mutat 2012 Jan 31;33(1):272-80. Epub 2011 Oct 31.

Hemoglobinopathies Laboratory, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/humu.21612DOI Listing
January 2012

Feasibility of nonselective testing for hemoglobinopathies in early pregnancy in The Netherlands.

Prenat Diagn 2011 Dec 26;31(13):1259-63. Epub 2011 Oct 26.

Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/pd.2882DOI Listing
December 2011

Hb St. Truiden [α68(E17)Asn→His] and Hb Westeinde [α125(H8)Leu→Gln]: two new abnormalities of the α2-globin gene.

Hemoglobin 2010 ;34(5):439-44

The Reference Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.3109/03630269.2010.509185DOI Listing
March 2011

New and known β-thalassemia determinants masked by known and new δ gene defects [Hb A(2)-Ramallah or δ6(A3)Glu→Gln, GAG>CAG].

Hemoglobin 2010 ;34(5):445-50

The Reference Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.3109/03630269.2010.511591DOI Listing
March 2011

Implementing neonatal screening for haemoglobinopathies in the Netherlands.

J Med Screen 2010 ;17(2):58-65

Neonatal Screening Researcher, Screening Laboratory, National Institute for Public Health and the Environment, Laboratory for Infectious Diseases and Perinatal Screening, Bilthoven, The Netherlands.

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http://journals.sagepub.com/doi/10.1258/jms.2010.009075
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http://dx.doi.org/10.1258/jms.2010.009075DOI Listing
November 2010

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

Blood Cells Mol Dis 2010 Aug 1;45(2):133-5. Epub 2010 Jun 1.

Department of Human and Clinical Genetics, Leiden University Medical Center, The Netherlands.

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http://dx.doi.org/10.1016/j.bcmd.2010.05.004DOI Listing
August 2010

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

Hemoglobin 2010 Jun;34(3):322-6

INSERM U763, Université des Antilles et de la Guyane, Pointe-à-Pitre, Guadeloupe, France.

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http://dx.doi.org/10.3109/03630269.2010.484956DOI Listing
June 2010

Hb Den Haag [beta45(CD4)Phe-->Tyr]. A new hemoglobin variant observed during early pregnancy diagnostics.

Hemoglobin 2010 ;34(1):37-44

The Reference Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.3109/03630260903547435DOI Listing
May 2010

alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha2-globin gene.

Eur J Haematol 2010 Apr 12;84(4):354-8. Epub 2009 Nov 12.

The Reference Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics (LDGA), Leiden University Medical Center, Leiden.

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http://dx.doi.org/10.1111/j.1600-0609.2009.01380.xDOI Listing
April 2010

Multi centric origin of Hb D-Punjab [beta121(GH4)Glu-->Gln, GAA>CAA].

Hemoglobin 2009 ;33(6):399-405

Hemostasis Unit, Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

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http://dx.doi.org/10.3109/03630260903344598DOI Listing
March 2010

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

Blood Cells Mol Dis 2010 Mar 27;44(3):146-51. Epub 2010 Jan 27.

Department of Human and Clinical Genetics, Leiden University Medical Center, The Netherlands.

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http://dx.doi.org/10.1016/j.bcmd.2009.12.011DOI Listing
March 2010

Two new alpha1-globin gene point mutations: Hb Nedlands (HBA1:c.86C>T) [alpha28(B9)Ala-->Val] and Hb Queens Park (HBA1:c.98T>A) [alpha32(B13)Met-->Lys].

Hemoglobin 2010 Jan;34(2):123-6

Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.3109/03630261003679854DOI Listing
January 2010

Extended molecular spectrum of beta- and alpha-thalassemia in Oman.

Hemoglobin 2010 Jan;34(2):127-34

Darsait Molecular Genetics Laboratory, Directorate General of Health Affairs, Muscat, Sultanate of Oman.

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http://dx.doi.org/10.3109/03630261003673147DOI Listing
January 2010

Prospective and retrospective primary prevention of hemoglobinopathies in multiethnic societies.

Authors:
Piero C Giordano

Clin Biochem 2009 Dec 8;42(18):1757-66. Epub 2009 Jul 8.

Hemoglobinopathies Laboratory, Human and Clinical Genetics Department, Leiden University Medical Center, O&O Building, Einthovenweg 20, 2333 ZC, PO Box 9600, 2300 RC Leiden, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S000991200900295
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http://dx.doi.org/10.1016/j.clinbiochem.2009.06.027DOI Listing
December 2009

Screening and genetic diagnosis of hemoglobinopathies in southern and northern europe: two examples.

Mediterr J Hematol Infect Dis 2009 Aug 8;1(1):e2009007. Epub 2009 Aug 8.

Associazione Nazionale Microcitemie Italia (ANMI ONLUS), Centro Studi Microcitemie di Roma, Roma, Italia.

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http://dx.doi.org/10.4084/MJHID.2009.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3033153PMC
August 2009

Hb Lepore-Leiden: a new delta/beta rearrangement associated with a beta-thalassemia minor phenotype.

Hemoglobin 2008 ;32(5):446-53

Department of Human and Clinical Genetics and The Hemoglobinopathies Laboratory, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1080/03630260802173429DOI Listing
July 2009

Frequency of alpha-globin gene triplications and their interaction with beta-thalassemia mutations.

Hemoglobin 2009 ;33(2):124-31

Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.

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http://dx.doi.org/10.1080/03630260902827684DOI Listing
June 2009

Detection of a thalassemic alpha-chain variant (Hemoglobin Groene Hart) by reversed-phase liquid chromatography.

Clin Chem 2008 Jun 17;54(6):1053-9. Epub 2008 Apr 17.

Institut de Biologie et de Biochimie des Protéines, IFR128, Université Claude Bernard-Lyon I, Lyon, France.

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http://dx.doi.org/10.1373/clinchem.2007.097857DOI Listing
June 2008

Refinement of the genetic cause of ATR-16.

Hum Genet 2007 Nov 28;122(3-4):283-92. Epub 2007 Jun 28.

Department of Clinical Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center (LUMC), 2333RC Leiden, The Netherlands.

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http://dx.doi.org/10.1007/s00439-007-0399-yDOI Listing
November 2007

An overview of current microarray-based human globin gene mutation detection methods.

Hemoglobin 2007 ;31(3):289-311

Genomic Unit for the Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1080/03630260701459366DOI Listing
October 2007

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

Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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December 2006

Three new alpha-thalassemia point mutations ascertained through newborn screening.

Hemoglobin 2006 ;30(2):149-53

Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Ontario, Canada.

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http://dx.doi.org/10.1080/03630260600642021DOI Listing
August 2006

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

The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.tandfonline.com/doi/full/10.1080/0363026060075535
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http://dx.doi.org/10.1080/03630260600755351DOI Listing
August 2006

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

Department of Human and Clinical Genetics, The Hemoglobinopathies Laboratory, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1080/03630260500453784DOI Listing
July 2006

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

The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.

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http://dx.doi.org/10.1080/03630260500307956DOI Listing
February 2006

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

Haematologica 2006 Jan;91(1):129-32

Dept. of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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January 2006

Hb Oegstgeest [alpha104(G11)Cys-->Ser (alpha1)]. A new hemoglobin variant associated with a mild alpha-thalassemia phenotype.

Hemoglobin 2005 ;29(3):165-9

The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1081/hem-200066293DOI Listing
December 2005

Estimating the attitude of immigrants toward primary prevention of the hemoglobinopathies.

Prenat Diagn 2005 Oct;25(10):885-93

Department of Human and Clinical Genetics, Leiden University Medical Center, The Netherlands.

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http://dx.doi.org/10.1002/pd.1206DOI Listing
October 2005

Hb Geldrop St. Anna [beta94(FG1)Asp --> Tyr]: a new hemoglobin variant observed in a diabetic patient.

Hemoglobin 2005 ;29(2):107-12

The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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September 2005

Hb zoeterwoude [beta23(B5)Val-->Ala)]: a new beta-globin variant found in association with erythrocytosis.

Hemoglobin 2005 ;29(1):11-7

The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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August 2005

Molecular basis of Hb H disease in southwest Iran.

Hemoglobin 2005 ;29(1):43-50

Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, AL Leiden, The Netherlands.

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August 2005

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

Hemoglobinopathies Laboratory, Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1081/hem-200037735DOI Listing
May 2005

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

Hematol J 2004 ;5(6):524-7

Hemostasis and thrombosis Unit, Hematology Research Center, School of Medicine, University of Medical Sciences, Shiraz, Iran.

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http://dx.doi.org/10.1038/sj.thj.6200553DOI Listing
April 2005

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

Haematologica 2004 Oct;89(10):1172-8

Thalassemia Medical Center, Medical Faculty, Bandar Abbas University, Iran.

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October 2004

Hb Suan-Dok [alpha109(G16)Leu-->Arg; CTG-->CGG (alpha2)] described in a patient of African ancestry.

Hemoglobin 2004 Aug;28(3):173-6

Department of Internal Medicine, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1081/hem-120040309DOI Listing
August 2004

Hb Buffalo [alpha89(FG1)His-->Gln (alpha1)], observed solely and in the presence of an Hb S [beta6(A3)Glu-->Val] heterozygosity.

Hemoglobin 2004 Aug;28(3):223-7

The Hemoglobinopathies and Red Cell Diagnostics, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1081/hem-200029150DOI Listing
August 2004

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 2004 Aug;28(3):255-9

Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1081/hem-120040257DOI Listing
August 2004

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

Eur J Hum Genet 2004 Jul;12(7):567-73

Sanquin Research at CLB and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://www.nature.com/articles/5201192
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http://dx.doi.org/10.1038/sj.ejhg.5201192DOI Listing
July 2004

Frequency and spectrum of hemochromatosis mutations in Tunisia.

Hematol J 2003 ;4(6):433-5

Hemoglobinopathies Group, Laboratory of Hematology, Pasteur Institute of Tunis, Tunis le Belvedere, Tunisia.

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http://dx.doi.org/10.1038/sj.thj.6200337DOI Listing
February 2004

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

Br J Haematol 2003 Sep;122(5):855-8

Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1046/j.1365-2141.2003.04505.xDOI Listing
September 2003

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

Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, AL Leiden, The Netherlands.

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http://dx.doi.org/10.1081/hem-120018437DOI Listing
February 2003

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

Department of Human and Clinical Genetics, Leiden University Medical Centre, The Netherlands.

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http://dx.doi.org/10.1046/j.1365-2141.2003.04060.xDOI Listing
January 2003

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

Hemoglobin 2002 Nov;26(4):353-62

Hemoglobinopathies Group, Laboratory of Hematology, Pasteur Institute of Tunis, 1002 Tunis le Belvedere, Tunisia.

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http://dx.doi.org/10.1081/hem-120016372DOI Listing
November 2002

Hb delfzicht [alpha9(A7)Asn-->Lys (alpha1)]: a new, clinically silent hemoglobin variant observed in a Dutch patient.

Hemoglobin 2002 May;26(2):181-4

Department of Human and Medical Genetics, Leiden University Medical Centre, The Netherlands.

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http://dx.doi.org/10.1081/hem-120005457DOI Listing
May 2002