Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.

Background: Pulmonary complications are a major cause of morbidity and mortality in sickle cell disease (SCD). The relationship of asthma with SCD and acute chest syndrome (ACS) remains uncertain. A study was undertaken to test the hypotheses that asthma and bronchial hyperreactivity (BHR) are more common in children with SCD than in ethnic matched controls and that SCD children with atopic asthma are more likely to have recurrent episodes of ACS. Methods: A modified International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire was administered and skin prick tests undertaken in 80 children with SCD and 80 ethnic matched controls aged 5–10 years. BHR was assessed by measurement of forced expiratory volume in 1 second before and after a bronchodilator (albuterol 200 μg) or an exercise challenge. Results: Asthma (48% v 22%, p = 0.002) and BHR (p = 0.02) but not atopy were more common in children with SCD than in controls. Atopy (66.6% v 29%, p = 0.007) and asthma (80% v 40%, p = 0.005), particularly atopic asthma (53% v 12%, p<0.001), were more common in children with SCD who had suffered recurrent episodes of ACS than in those who had suffered a single or no episode. Conclusions: Asthma and BHR are more common in children with SCD than in ethnic matched controls, and atopic asthma appears to be associated with recurrent ACS. Early and effective anti-asthma therapy might reduce the pulmonary morbidity associated with SCD.

Globally, the majority of persons born with sickle cell disease do not have access to hydroxyurea or more expensive interventions. The objectives were to estimate the survival in homozygous sickle cell disease, unbiased by symptomatic selection and to ascertain the causes of death in a pre-hydroxyurea population. The utility of early life biomarkers and genetically determined phenotypes to predict survival was assessed. A cohort study based on neonatal diagnosis was undertaken at the Sickle Cell Unit, a specialist clinic delivering care to persons with sickle cell disease in Jamaica. Screening of 100,000 deliveries detected 315 babies with homozygous sickle cell disease of whom 311 have been followed from birth for periods up to 43 years. Pneumococcal prophylaxis and teaching mothers splenic palpation were important, inexpensive interventions. Anticipatory guidance, routine care and out-patient acute care were provided. Each participant was classified as alive, dead, or defaulted (usually emigration). Causes of death were ascertained from clinical records and/or post-mortem reports. Survival was assessed using the Kaplan-Meier function. Sex-adjusted Cox semi-parametric proportional hazards and Weibull modelling were used to assess the effects on survival of biomarkers. Survival to 40 years was 55.5% (95% CI 48.7% to 61.7%). Acute Chest Syndrome (n = 31) and septicemia (n = 14) were significant causes of death at all ages. Acute splenic sequestration (n = 12) was the most common cause of early deaths. Survival was significantly shorter in those with lower hemoglobin at 1 year, high total nucleated count at 1 year, and a history of dactylitis ever. In these hydroxyurea naïve patients, survival into midlife was common. Causes of death were often age specific and some may be preventable. Early life biomarkers predictive of decreased survival in SS disease identify a patient group likely to benefit from close clinical supervision and potentially high risk therapies.

Background: The metabolic syndrome has a high prevalence in many countries and has been associated with socioeconomic status (SES). This study aimed to estimate the prevalence of the metabolic syndrome and its components among Jamaican young adults and evaluate its association with parental SES. Methods: A subset of the participants from the 1986 Jamaica Birth Cohort was evaluated at ages 18-20 years between 2005 and 2007. Trained research nurses obtained blood pressure and anthropometric measurements and collected a venous blood sample for measurement of lipids and glucose. Prevalence of the metabolic syndrome and its components were estimated using the 2009 Consensus Criteria from the International Diabetes Federation, National Heart Lung and Blood Institute, American Heart Association, World Heart Federation, International Atherosclerosis Society, and International Association for the Study of Obesity. SES was assessed by questionnaire using occupation of household head, highest education of parent/guardian, and housing tenure of parent/guardian. Analysis yielded means and proportions for metabolic syndrome variables and covariates. Associations with levels of SES variables were obtained using analysis of variance. Multivariable analysis was conducted using logistic regression models. Results: Data from 839 participants (378 males; 461 females) were analyzed. Prevalence of the metabolic syndrome was 1.2% (95% confidence interval [95%CI] 0.5%-1.9%). Prevalence was higher in females (1.7% vs. 0.5%). Prevalence of the components [male: female] were: central obesity, 16.0% [5.3:24.7]; elevated blood pressure, 6.7% [10.8:3.3]; elevated glucose, 1.2% [2.1:0.4]; low HDL, 46.8% [28.8:61.6]; high triglycerides, 0.6% [0.5:0.6]. There were no significant differences in the prevalence of the metabolic syndrome for any of the SES measures used possibly due to lack of statistical power. Prevalence of central obesity was inversely associated with occupation (highly skilled 12.4%, skilled 13.5%, semi-skilled/unskilled 21.8%, p = 0.013) and education (tertiary 12.5%, secondary 14.1%, primary/all-age 28.4%, p = 0.002). In sex-specific multivariate logistic regression adjusted for hip circumference, central obesity remained associated with occupation and education for women only. Conclusion: Prevalence of the metabolic syndrome is low, but central obesity and low HDL are present in 16% and 47% of Jamaican youth, respectively. Central obesity is inversely associated with occupation and education in females.

The region surrounding the Caribbean Sea is predominantly composed of island nations for its Eastern part and the American continental coast on its Western part. A large proportion of the population, particularly in the Caribbean islands, traces its ancestry to Africa as a consequence of the Atlantic slave trade during the XVI–XVIII centuries. As a result, sickle cell disease has been largely introduced in the region. Some Caribbean countries and/or territories, such as Jamaica and the French territories, initiated newborn screening (NBS) programs for sickle cell disease more than 20 years ago. They have demonstrated the major beneficial impact on mortality and morbidity resulting from early childhood care. However, similar programs have not been implemented in much of the region. This paper presents an update of the existing NBS programs and the prevalence of sickle cell disease in the Caribbean. It demonstrates the impact of the Caribbean Network of Researchers on Sickle Cell Disease and Thalassemia (CAREST) on the extension of these programs. The presented data illustrate the importance of advocacy in convincing policy makers of the feasibility and benefit of NBS for sickle cell disease when coupled to early care.