Neonatal screening for sickle cell disease in France: evaluation of the selective process: Table 1

Thuret, Isabelle; Sarles, J.; Merono, Françoise; Suzineau, E.; Collomb, J.; Léna-Russo, D; Levy, Nicolas; Bardakdjian, J.; Badens, Catherine

doi:10.1136/jcp.2009.068874

Cited by 27 publications

(16 citation statements)

References 14 publications

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“…Currently there is some effort at mass mobilization and sensitization activities with advocacy to religious leaders to request for the "genotype" of couples who intend to be joined in marriages, there is a poor uptake of premarital counselling among marriages conducted according to Islamic laws relative to Church weddings where premarital counselling and tests including haemoglobin "genotype" tests are pre-requisites to conducting weddings. As interest in premarital counselling and screening in this population grows, the quality and the source of procurement of "genotype" tests need to be substantiated among faithful adherents of both religious groups [15].…”

Section: Discussionmentioning

confidence: 99%

A Multi-centre Survey of Acceptability of Newborn Screening for Sickle Cell Disease in Nigeria

Nnodu¹,

Adegoke²,

Ezenwosu³

et al. 2018

Cureus

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Background Sickle cell disease (SCD) is a major genetic disease that manifests early in life and may lead to significant morbidities. One of the health care services that have been effective in reducing the burden of SCD in developed countries is newborn screening (NBS) followed by pneumococcal vaccines, penicillin prophylaxis, and hydroxyurea treatment. Yet, in sub-Saharan African countries, where about 75% of annual affected babies worldwide are born, NBS programmes are largely unavailable. It is not clear whether this is due to technical challenges associated with setting up such programmes, or significant cultural and social barriers to its acceptance in such settings. Objective Our aim was to ascertain the attitudes to and acceptability of NBS in Nigeria among various sociodemographic groups including health professionals, undergraduate students, parents of children with SCD and SCD patients.

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Section: Discussionmentioning

confidence: 99%

A Multi-centre Survey of Acceptability of Newborn Screening for Sickle Cell Disease in Nigeria

Nnodu¹,

Adegoke²,

Ezenwosu³

et al. 2018

Cureus

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“…Sickle cell disease (SCD) was once largely confined to populations of sub-Saharan Africa but has recently become the most frequent genetic disease diagnosed in developed countries such as the United Kingdom and France (Piel et al, 2010). In these two countries, the incidence of SCD is approximately 1 in 1500 to 1 in 3800 newborns per year (Piel et al, 2010;Thuret et al, 2010). The modern management of SCD has substantially extended the life expectancy of affected patients to about 61 years (Elmariah et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

Delayed Healing of Sickle Cell Ulcers Is due to Impaired Angiogenesis and CXCL12 Secretion in Skin Wounds

Nguyen

Nassar

Batteux

et al. 2016

Journal of Investigative Dermatology

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Leg ulcers are a major complication of sickle cell disease that occur in 2.5-40% of patients. Leg ulcers are responsible for frequent complications because they are often long-lasting and are highly resistant to therapy. Although their occurrence is associated with hyperhemolysis, the mechanisms underlying sickle cell ulcers remain poorly understood. In this study, we show that skin wound healing is severely altered in old SAD sickle cell mice but is normal in young animals, consistent with reports in humans. Alterations of wound healing were associated with impaired blood and lymphatic angiogenesis in the wound beds and poor endothelial progenitor cell mobilization from the bone marrow. CXCL12 secretion by keratinocytes and inflammatory cells was low in the wounds of SAD mice. Local therapy with endothelial progenitor cells or recombinant CXCL12 injections restored wound angiogenesis and rescued the healing defect together with mobilization of circulating endothelial progenitor cells. To our knowledge, this is a previously unreported study of the cellular and molecular mechanisms of sickle cell ulcers in a murine model that provides promising therapeutic perspectives for clinical trials.

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“…Newborn screening : During the last decade HBP’s have been included in the ongoing newborn screening (NBS) in a number of Northern European countries, in the USA and as pilot experiments in some South American and African states [23,24,25,26,27] (Table 1). NBS has been originally planned following the model used for metabolic diseases like Phenylketonuria (PKU), and thus for morbidity (secondary) prevention providing early treatment directly after birth, before irreversible organ damage occurs.…”

Section: Hemoglobinopathiesmentioning

confidence: 99%

Genetic Epidemiology and Preventive Healthcare in Multiethnic Societies: The Hemoglobinopathies

Giordano

Harteveld

Bakker

2014

IJERPH

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Healthy carriers of severe Hemoglobinopathies are usually asymptomatic and only efficiently detected through screening campaigns. Based upon epidemiological data, screenings have been offered for decades to populations of endemic Southern Europe for primary prevention of Thalassemia Major, while for many populations of the highly endemic African and Asian countries prevention for Sickle Cell Disease and Thalassemia Major is mainly unavailable. The massive migrations of the last decades have brought many healthy carriers of these diseases to live and reproduce in non-endemic immigration areas changing the epidemiological pattern of the local recessive diseases and bringing an urgent need for treatment and primary prevention in welfare countries. Nonetheless, no screening for an informed reproductive choice is actively offered by the healthcare systems of most of these welfare countries. As a consequence more children affected with severe Hemoglobinopathies are born today in the immigration countries of Northern Europe than in the endemic Southern European area. Following the Mediterranean example, some countries like the UK and The Netherlands have been offering early pregnancy carrier screening at different levels and/or in specific areas but more accessible measures need to be taken at the national level in all immigration countries. Identification of carriers using simple and inexpensive methods should be included in the Rhesus and infectious diseases screening which is offered early in pregnancy in most developed countries. This would allow identification of couples at risk in time for an informed choice and for prenatal diagnosis if required before the first affected child is born.

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Neonatal screening for sickle cell disease in France: evaluation of the selective process: Table 1

Abstract: These results show that selective neonatal screening for sickle cell disease is feasible if very careful attention is paid to the selective step.

Cited by 27 publications

References 14 publications

A Multi-centre Survey of Acceptability of Newborn Screening for Sickle Cell Disease in Nigeria

A Multi-centre Survey of Acceptability of Newborn Screening for Sickle Cell Disease in Nigeria

Delayed Healing of Sickle Cell Ulcers Is due to Impaired Angiogenesis and CXCL12 Secretion in Skin Wounds

Genetic Epidemiology and Preventive Healthcare in Multiethnic Societies: The Hemoglobinopathies

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