Universal newborn screening for haemoglobinopathies in Guadeloupe (French West Indies): A 27-year experience

Abstract

Objectives: In Guadeloupe, an island in the French West Indies, a universal newborn screening programme for sickle cell disease and other abnormal haemoglobins was initiated in 1984. In 1990, a comprehensive sickle cell centre was established to carry on the management programme. We here report the main results from the newborn screening programme from 1984 to 2010, and consider how the establishment of the sickle cell centre affected the programme. Methods: All blood samples were screened for the haemoglobinopathies using two reference methods in a single reference diagnosis laboratory. DNA analyses were also performed for confirmatory tests and analysis of the globin gene status. Results: Between 1 January 1984 and 31 December 2010, 178,428 newborns were screened at birth, and 585 children were diagnosed with major sickle cell syndromes (ie. an overall incidence of 1 in 304 births). Sickle cell anaemia (haemoglobin SS disease) was the most frequently observed (1 in 575 births), followed by haemoglobin SC disease (1 in 771 births) and haemoglobin Sb-thalassemia disease (1 in 4,243 births). Some other rare haemoglobin variants were also detected, the most common being HbD Punjab . The establishment of a comprehensive sickle cell centre resulted in a significant improvement in the screening coverage (p < 0.001) and a significant reduction of the delay between diagnosis and the first medical visit (p < 0.001). Conclusion: The universal screening programme has made it possible to establish the incidence of the major sickle cell syndromes in Guadeloupe, and the management centre has improved its efficiency.

Newborn Screening for Sickle Cell Disease in the Caribbean: An Update of the Present Situation and of the Disease Prevalence

“…Given the SCD prevalence and the demonstration of the benefit of the NBS program, one might have expected that SCD NBS would be entrenched across the Region. This is clearly not the case and our data suggest several factors which may be at play, with the availability of resources being a major issue [5,6,9].…”

“…Indeed, the second most frequent sickle cell genotype encountered in these populations was the genotype SC, with some differences in the β S /β C ratio detected, and the highest was observed in Saint-Lucia and the lowest in Tobago, as indicated in Table 3. The others correspond to S/β-thalassemia compound heterozygosity (including S/E and S/Lepore) and also S/D Punjab [3,6].…”

“…The focus is on pneumococcal prevention and general health maintenance (parents' education, counselling) prior to the onset of complications. In Martinique, Guadeloupe, French Guiana, and Jamaica, most of the SCD children identified by the NBS program are followed by Sickle cell centers before the age of three months [5,6]. In Saint-Lucia and Tobago, babies identified are followed up in pediatric outpatient clinics.…”

“…Allele frequencies were estimated by gene-counting and the prevalence of SCD was calculated from the newborn screening results. Table 2 summarizes the main results of the hemoglobinopathy NBS programs performed in the French territories [6], Jamaica [5], Grenada [13], Tobago [9], and Saint Lucia [10]. The current coverage of the NBS programs is as follows: Guadeloupe (>98%), Martinique (>99%), Jamaica (>98%), and Tobago (96%).…”

“…However, prior to 2006, accurate SCD prevalence and epidemiological data were available for only a limited number of these countries and territories. These data were provided from NBS programs implemented in Jamaica [5] and in the French territories [6], as well as from a prenatal diagnosis program in Cuba [7,8]. Collaboration between medical and scientific Caribbean teams began to increase in 2006, leading to the founding in 2011 of the Caribbean Network of Researchers on Sickle Cell Disease and Thalassemia (CAREST) as a not-for-profit organization [9].…”