Bridging the Access Gap for Comprehensive Sickle Cell Disease Management Across Sub-Saharan Africa: Learnings for Other Global Health Interventions?

Background: Sickle cell disease (SCD) is a major unresolved global health issue, with the highest disease burden in sub-Saharan African countries; yet, SCD care has not proportionally reached patients in these regions, and the disease has received limited attention in the past. Addressing the burden of SCD in sub-Saharan Africa requires a holistic, collaborative approach to ensure solutions are both comprehensive - i.e., cover the entire continuum of care from early diagnosis to treatment - and sustainable - i.e., are co-created and co-owned with local partners and integrated into existing local systems to enable long-term independence without the need for continuous external support. Objective: We outline a set of recommendations for enhancing the provision of comprehensive healthcare for prevalent diseases in resource-constraint settings, gathered from the Novartis Africa SCD Program, that could serve as 'blueprint' for public-private partnerships to tackle global health priorities. Methods: The Novartis Africa SCD program was initiated with the aim to bridge access gaps to SCD care and provide comprehensive and innovative treatment solutions for SCD, especially in SSA where the disease burden is highest. The Program was first inaugurated in 2019 in Ghana through a public-private partnership with the Ministry of Health of the Government of Ghana, the Ghana Health Service, and the Sickle Cell Foundation of Ghana. Through engagement with these partners, as well as with support from other organizations with complementary competencies and resources, several targeted solutions were implemented to help strengthen the healthcare ecosystem to allow for comprehensive SCD management. Learnings from these interventions are highlighted as best practice consideration as a catalyst and to activate more public-private actors for this neglected global health issue. Findings and Conclusions: A solid understanding of the access barriers to comprehensive care has to be acquired by listening to and learning from patients, civil society, and local experts. Access barriers need to be addressed at multiple levels, i.e., by not only making medicines available and affordable, but also by strengthening healthcare systems, building capacity, and fostering local research and development. Partnerships across governmental, public, academic, non-profit, and private organizations are needed to secure political will, pool resources, gather expertise with understanding of the local context, and allow integration into all levels of existing local healthcare structures and the wider society.

Outcomes of haemoglobin Bart's hydrops fetalis following intrauterine transfusion in Ontario, Canada.

OBJECTIVES: With improved access to intrauterine transfusion (IUT), more fetuses with haemoglobin Bart's hydrops fetalis (HBHF; homozygous α0-thalassaemia) will survive. DESIGN: To evaluate the long-term outcome of affected fetuses with and without IUT in Ontario, Canada, we retrospectively collected data on IUTs and pregnancy outcomes in all cases of HBHF, from 1989 to 2014. Clinical outcome and neurocognitive profiles of long-term survivors were also collected and compared with data from 24 patients with transfusion-dependent ß-thalassaemia (TDT-ß). RESULTS: Of the 99 affected pregnancies (93 prenatally diagnosed), 68 resulted in miscarriage or elective termination of pregnancy. Twelve mothers (12%) continued their pregnancies without IUT, and none of those newborns survived the first week of life. All 13 fetuses that received IUT(s) were live-born, but 3 died due to severe hydrops at birth and 1 died due to infection. The remaining nine survivors, in comparison with TDT-ß patients, had earlier iron overload requiring iron chelation therapy. Endocrinopathies and short stature were more frequent in these patients. Neurocognitive outcome was not significantly affected in five patients who were assessed, and none were diagnosed with intellectual impairment. In three patients, MRI studies demonstrated brain white matter changes in keeping with 'silent' ischaemic infarcts. CONCLUSIONS: In patients with HBHF, IUT is associated with improved survival. While acceptable neurocognitive outcome can be expected, these patients have more clinical complications compared with their TDT-ß counterparts. The clinical and neurocognitive outcomes of HBHF should be discussed in detail when counselling and offering IUT for patients.

Inadequate dietary intake in patients with thalassemia.

BACKGROUND: Patients with thalassemia have low circulating levels of many nutrients, but the contribution of dietary intake has not been assessed. OBJECTIVE: Our objective was to assess dietary intake in a large contemporary sample of subjects with thalassemia. DESIGN: A prospective, longitudinal cohort study using a validated food frequency questionnaire was conducted. PARTICIPANTS/SETTING: Two hundred and twenty-one subjects (19.7±11.3 years, 106 were female) were categorized into the following age groups: young children (3 to 7.9 years), older children/adolescents (8 to 18.9 years), and adults (19 years or older); 78.8% had ß-thalassemia and 90% were chronically transfused. This study took place at 10 hematology outpatient clinics in the United States and Canada. MAIN OUTCOME MEASURES: We conducted a comparison of intake with US Dietary Reference Intakes and correlated dietary intake of vitamin D with serum 25-OH vitamin D and dietary iron with total body iron stores. STATISTICAL ANALYSES PERFORMED: Intake was defined as inadequate if it was less than the estimated average requirement. χ(2), Fisher's exact, and Student's t test were used to compare intake between age categories and logistic regression analysis to test the relationship between intake and outcomes, controlling for age, sex, and race. RESULTS: More than 30% of subjects consumed inadequate levels of vitamin A, D, E, K, folate, calcium, and magnesium. The only nutrients for which >90% of subjects consumed adequate amounts were riboflavin, vitamin B-12, and selenium. Dietary inadequacy increased with increasing age group (P<0.01) for vitamins A, C, E, B-6, folate, thiamin, calcium, magnesium, and zinc. More than half of the sample took additional supplements of calcium and vitamin D, although circulating levels of 25-OH vitamin D remained insufficient in 61% of subjects. Dietary iron intake was not related to total body iron stores. CONCLUSIONS: Subjects with thalassemia have reduced intake of many key nutrients. These preliminary findings of dietary inadequacy are concerning and support the need for nutritional monitoring to determine which subjects are at greatest risk for nutritional deficiency. Future research should focus on the effect of dietary quality and nutritional status on health outcomes in thalassemia.