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The role of haemoglobin A2 testing in the diagnosis of thalassaemias and related haemoglobinopathies

Journal of clinical pathology, 2009-01, Vol.62 (1), p.13-17

2009

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Starting neonatal screening for haemoglobinopathies in The Netherlands

Journal of clinical pathology, 2009-01, Vol.62 (1), p.18-21

Giordano, P C

2009

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

Journal of medical genetics, 2005-12, Vol.42 (12), p.922-931

2005

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Strategies for basic laboratory diagnostics of the hemoglobinopathies in multi-ethnic societies: interpretation of results and pitfalls

International journal of laboratory hematology, 2013-10, Vol.35 (5), p.465-479

Giordano, P. C.

2013

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

Clinical biochemistry, 2010-11, Vol.43 (16), p.1345-1350

2010

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One-third of the new paediatric patients with sickle cell disease in The Netherlands are immigrants and do not benefit from neonatal screening

Archives of disease in childhood, 2010-10, Vol.95 (10), p.822-825

2010

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

American journal of hematology, 2003-10, Vol.74 (2), p.99-103

2003

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The role of haemoglobin A(2) testing in the diagnosis of thalassaemias and related haemoglobinopathies

Journal of clinical pathology, 2009-01, Vol.62 (1), p.13-17

2009

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Diagnosis and management of thalassaemia

BMJ, 2012-01, Vol.344 (jan25 4), p.e228-e228

International edition, 2012

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Prevention strategies for severe hemoglobinopathies in endemic and nonendemic immigration countries: the Latium example

Prenatal diagnosis, 2009-12, Vol.29 (12), p.1171-1174

2009

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Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi-ethnic populations

International journal of laboratory hematology, 2009-10, Vol.31 (5), p.484-495

2009

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ICSH recommendations for the measurement of Haemoglobin A2

International journal of laboratory hematology, 2012-02, Vol.34 (1), p.1-13

2012

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Carrier diagnostics and prevention of hemoglobinopathies in early pregnancy in The Netherlands: a pilot study

Prenatal diagnosis, 2006-08, Vol.26 (8), p.719-724

2006

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Segmental duplications involving the α-globin gene cluster are causing β-thalassemia intermedia phenotypes in β-thalassemia heterozygous patients

Blood cells, molecules, & diseases, 2008-05, Vol.40 (3), p.312-316

2008

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Epidemiology of haemoglobin disorders in Europe: an overview

Scandinavian journal of clinical and laboratory investigation, 2007, Vol.67 (1), p.39-70

2007

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

British journal of haematology, 2007-02, Vol.136 (4), p.662-665

2007

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Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA Ion Torrent PGM technology

Blood cells, molecules, & diseases, 2014-09, Vol.53 (3), p.133-137

2014

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ICSH recommendations for the measurement of Haemoglobin F

International journal of laboratory hematology, 2012-02, Vol.34 (1), p.14-20

2012

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The effect of iron deficiency anemia on the levels of hemoglobin subtypes: possible consequences for clinical diagnosis

Clinical and laboratory haematology, 2003-06, Vol.25 (3), p.203-203

Giordano, P C

2003

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Newborn screening for hemoglobinopathies using capillary electrophoresis

Methods in molecular biology (Clifton, N.J.), 2013, Vol.919, p.131

Giordano, P C

2013

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

European journal of medical genetics, 2014-11, Vol.57 (11), p.603-606

2014

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Paediatric allogeneic bone marrow transplantation for homozygous β-thalassaemia, the Dutch experience

Bone marrow transplantation (Basingstoke), 2003-06, Vol.31 (12), p.1081-1087

2003

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Diagnosis of Hb-pathies

European journal of human genetics : EJHG, 2002-11, Vol.10 (11), p.672-672

Giordano, P C

2002

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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

International journal of laboratory hematology, 2011-02, Vol.33 (1), p.85-91

2011

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After the Introduction into the National Newborn Screening Program: Who Is Receiving Genetic Counseling for Hemoglobinopathies in The Netherlands?

Public health genomics, 2014-01, Vol.17 (1), p.16-22

2014

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The role of haemoglobin A2 testing in the diagnosis of thalassaemias and related haemoglobinopathies

Starting neonatal screening for haemoglobinopathies in The Netherlands

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

Strategies for basic laboratory diagnostics of the hemoglobinopathies in multi-ethnic societies: interpretation of results and pitfalls

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

One-third of the new paediatric patients with sickle cell disease in The Netherlands are immigrants and do not benefit from neonatal screening

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

The role of haemoglobin A(2) testing in the diagnosis of thalassaemias and related haemoglobinopathies

Diagnosis and management of thalassaemia

Prevention strategies for severe hemoglobinopathies in endemic and nonendemic immigration countries: the Latium example

Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi-ethnic populations

ICSH recommendations for the measurement of Haemoglobin A2

Carrier diagnostics and prevention of hemoglobinopathies in early pregnancy in The Netherlands: a pilot study

Segmental duplications involving the α-globin gene cluster are causing β-thalassemia intermedia phenotypes in β-thalassemia heterozygous patients

Epidemiology of haemoglobin disorders in Europe: an overview

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

Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA Ion Torrent PGM technology

ICSH recommendations for the measurement of Haemoglobin F

The effect of iron deficiency anemia on the levels of hemoglobin subtypes: possible consequences for clinical diagnosis

Newborn screening for hemoglobinopathies using capillary electrophoresis

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

Paediatric allogeneic bone marrow transplantation for homozygous β-thalassaemia, the Dutch experience

Diagnosis of Hb-pathies

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

After the Introduction into the National Newborn Screening Program: Who Is Receiving Genetic Counseling for Hemoglobinopathies in The Netherlands?

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