Neonatal haemoglobinopathy screening in Belgium

Gulbis, Béatrice; Cotton, Frédéric; Ferster, Alice; Ketelslegers, Olivier; Dresse, M F; Rongé-Collard, E; Minon, Jean‐Marc; Lê, Phu Quoc; Vertongen, Françoise

doi:10.1136/jcp.2008.060517

Cited by 53 publications

(34 citation statements)

References 9 publications

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“…This incidence is slightly lower than that recorded in the UK 2 and similar to that reported in Germany and in Belgium. 3,4 In this study we provide, for the first time, a detailed profile of the state of health of thalassemia patients living in France. These data reflect our current practice as 70% of the patients were born in France and can benefit from recent progress in treatments early in life.…”

Section: Discussionmentioning

confidence: 99%

“…Brigitte Pegourie, 12 Claire Berger, 13 Marguerite Micheau, 14 Françoise Bernaudin, 15 Thierry Leblanc, 16 Laurence Lutz, 17 Frédéric Galactéros, 7 Marie-Claude Siméoni, 4 and Catherine Badens Introduction β-thalassemia is encountered in France due to immigration from areas in which the condition is endemic, with the exception of the island of Corsica where 3% of the population are carriers for β-thalassemia trait. Until recently, no national data on mortality, morbidity, or quality of care were available.…”

mentioning

confidence: 99%

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Complications and treatment of patients with -thalassemia in France: results of the National Registry

Thuret¹,

Pondarré²,

Loundou³

et al. 2009

Haematologica

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Complications and treatment of patients with -thalassemia in France: results of the National Registry

Thuret¹,

Pondarré²,

Loundou³

et al. 2009

Haematologica

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“…From December 1994 to June 1998 and from June 1998 to December 2007, the estimated incidence of sickle cell disorders was 1:2103 and 1:1559, respectively. 7,26 A diagnosis of sickle cell disorder in a neonate is reported immediately to the local co-ordinator of haemoglobinopathies screening and the medical staff of the maternity service concerned. The phenotype is confirmed by retesting the affected child immediately.…”

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confidence: 99%

Screening for haemoglobinopathies on cord blood: laboratory and clinical experience

2012

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Objectives Blood from the umbilical cord (cord blood) is screened for haemoglobinopathies in several neonatal screening programmes, as well as before banking as a source of stem cells. We investigated the pre-analytical and analytical aspects of neonatal screening for haemoglobinopathies on liquid cord blood using the Sebia Haemoglobin kit. We give an interpretation of the results as well as a proposed scheme for reporting of the results. Methods A neonatal screening programme on liquid cord blood has been performed in all labour wards in Brussels since 1994. Using that material, the screening methods of isoelectric focusing and capillary zone electrophoresis were compared using 962 cord blood samples. From December 2008 to December 2010, 47,388 neonatal samples were analysed by capillary electrophoresis as the firstline method for neonatal screening. High-performance liquid chromatography was used as the second-line method. Results Capillary zone electrophoresis on liquid cord blood enabled the detection of all clinically significant haemoglobin variants, significant levels of Hb Bart's, and b-thalassaemia major. Among the 47,388 neonatal samples tested, 362 (0.7%) were suspected to be contaminated with maternal blood, but no diagnostic error was reported retrospectively for a major haemoglobinopathy. Recommendations for the interpretation and reporting of results of neonatal screening for haemoglobinopathies using the Sebia Haemoglobin kit are proposed. Conclusions A routine capillary electrophoresis kit adapted to neonatal screening and liquid cord blood is reliable for screening for haemoglobinopathies. It enables early detection and reporting of all major haemoglobinopathies and most minor ones. It also enables use of a simple scheme to report the results.

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“…Experience in Belgium has shown universal neonatal screening to be an excellent health education tool. 15 Countries in Africa can benefit by implementing similar programs, as their development is pivotal to improving the health care of those affected by hemoglobin disorders. However, such program require major economic and organizational resources, which must be taken into account and balanced against other local health priorities.…”

Section: Discussionmentioning

confidence: 99%

Abnormal hemoglobin variants, ABO, and Rhesus blood group distribution among students in the Niger Delta of Nigeria

Erhabor¹

2010

PLMI

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Background: Communities in Africa constitute a major part of the population that is vulnerable to many erythrocytic hereditary and hematological disorders such as hemoglobinopathies. The frequencies of abnormal hemoglobin variants, ABO, and Rhesus blood groups vary from one population to another. Methods: The aim of this study was to find the prevalence/spectrum of hemoglobin variants, ABO, and Rhesus blood group distribution among 204 undergraduate students of African descent in Port Harcourt in the heart of the Niger Delta geopolitical zone of Nigeria. Standard alkaline cellulose acetate electrophoretic technique using the Shandon electrophoretic tank with tris-ethylene diamine tetracetic acid (EDTA) borate buffer and hemagglutination techniques were employed for the determination of abnormal hemoglobin variants, ABO and Rhesus blood groups, respectively. Results: Two hundred and four apparently healthy students of African descent comprising 124 males (60.8%) and 80 (39.2%) females with a mean age 24.5 ± 6.5 years took part in the study. Subjects were screened for abnormal hemoglobin variants, ABO, and Rhesus groups. Normal hemoglobin accounted for 69.1%, followed by abnormal sickle cell trait in 29.4%, and the sickle cell disease in 1.5% of the study population. The distribution of the various blood groups indicated that 46% were blood group O, 26.6% were group A, 23.6% were group B while 3.8% were group AB. Rhesus (RhD) positivity rate was 93% while RhD negativity accounted for 7%. Conclusion: This research indicates a high prevalence of hemoglobin variants in the study population. Carrier screening and mutation identification can become the cornerstones of any prevention program for hemoglobin disorders. It can also help in the formulation of genetic counseling policies to help prospective couples make informed decisions in a bid to reduce the sickling gene pool in the Niger Delta of Nigeria.

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Neonatal haemoglobinopathy screening in Belgium

Cited by 53 publications

References 9 publications

Complications and treatment of patients with -thalassemia in France: results of the National Registry

Complications and treatment of patients with -thalassemia in France: results of the National Registry

Screening for haemoglobinopathies on cord blood: laboratory and clinical experience

Abnormal hemoglobin variants, ABO, and Rhesus blood group distribution among students in the Niger Delta of Nigeria

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