Newborn sickle cell disease screening: the Jamaican experience (1995–2006)

King, Lesley G.; Fraser, Raphael; Forbes, M.; Grindley, Marlyn; Ali, Susanna Bortolusso; Reid, Marvin

doi:10.1258/096914107782066185

Cited by 66 publications

(99 citation statements)

References 13 publications

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“…Similar incidence (8.2 and 9.2 first episodes per 100 patient-years) was found by other authors. 8,23 Regarding recurrence of episodes, the results from other authors are similar to those found in our study, with rates of 49, 50 and 71%. 8,13,14 There was no statistically significant association between sex and development of ASS, similar to the findings by other authors.…”

Section: Discussionsupporting

confidence: 91%

Sequestro esplênico agudo em coorte de crianças com anemia falciforme

Rezende¹,

Viana²,

Murao³

et al. 2009

J. Pediatr. (Rio J.)

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Objective: To analyze acute splenic sequestration (ASS) in children with sickle cell anemia diagnosed through a newborn screening program in the state of Minas Gerais, Brazil, and followed up at the hematology center in the city of Belo Horizonte, Minas Gerais, Brazil. Results: A total of 89 patients had 173 episodes of ASS (10.2 first episodes per 100 patient-years); 75% of the first episodes occurred before 2 years of age. The estimated probability of occurrence of the first episode of ASS during the study period was 40%. Recurrence rate reached 57.3%. After the first episode, splenectomy was indicated in only 12.4% of the cases; after the second, in 60.4% of the cases. After the third episode, 41.7% of the patients remained under clinical observation. The median time between indication for splenectomy and the actual surgical procedure was 2 months. During the intervening period, 37.2% of the children suffered a new episode of ASS and one child died. MethodsCase-fatality rate was 1.1% for the first episode and 7.8% for the subsequent episodes. Among a total of 255 children, 19 died: 36.8% due to infections and 26.3% after ASS. Conclusions:ASS is relatively common in sickle cell anemia, mainly in the first 2 years of life; relapse occurs in more than half of the cases. Conservative management instead of immediate splenectomy was the method of choice.Although the case-fatality rate was low, ASS was the second most common cause of death. These results disclose some fragilities of the health system in the state of Minas Gerais and the need for better professional education to approach ASS crises.J Pediatr (Rio J). 2009;85(2):163-169: Sickle cell anemia, acute splenic sequestration, children, splenectomy, newborn screening, mortality.

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Section: Discussionsupporting

confidence: 91%

Sequestro esplênico agudo em coorte de crianças com anemia falciforme

Rezende¹,

Viana²,

Murao³

et al. 2009

J. Pediatr. (Rio J.)

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“…Data from the Jamaica Sickle Cell Cohort Study show that approximately 14% of the SCD children died in the first two years of life before early-age interventions had been implemented, while 32% and 61% of children with haemoglobin SS disease became symptomatic by age of one year and two years respectively. 24,25 Such improvements in the screening coverage rate and early inclusion of affected children were a direct consequence of the centralized management of the UNBS programme, with close relationships between the reference diagnosis laboratory and the sickle cell centre (the laboratory was a unit of the sickle cell centre until 2011; now both are located in the same building). This allows earlier pathology results to be available to the nurse coordinator, and ensures timely enrollment of the affected children.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2013

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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.

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“…Evidence clearly highlights the benefits of NBS, enrolment into a comprehensive care programme and implementation of simple interventions such as penicillin prophylaxis (3,5,12). Such services are essential in countries like Jamaica where the burden of disease is high compared to other countries.…”

Section: What Lies Aheadmentioning

confidence: 99%

“…In addition, survival estimates in the childhood period show improvement when compared with the Jamaica Sickle Cell Cohort Study (3). Overall mortality in children 10 years and under decreased from 17.6% in the Jamaica Sickle Cell Cohort Study to 1.8% in the JamSCUB cohort (3).…”

Section: Introductionmentioning

confidence: 99%