Most of the estimated 312,000 children born with sickle cell anemia (SCA) each year reside in Africa and Asia and are dead by their fifth birthday1. That's a stark difference from the US where the disease is included in newborn screening programs.
Every day an estimated 500 children with SCA in Africa and Asia die due to causes such as unrecognized splenic sequestration, overwhelming pneumococcal sepsis or severe malaria. In the US, children with SCA would likely be on penicillin prophylaxis and vaccinated against the pneumococcal diseases. Parents in the US are usually trained to recognize splenomegaly and fever so that the child can be seen and treated, reducing mortality. In Africa and Asia, such children die young and undiagnosed.
A summary of the situation in Africa published this month in Pediatrics (peds.2016-0348) calls for change. Dr. Patrick McGann, a pediatrician at the University of Cincinnati, reviews the problems in diagnosing sickle cell in Africa and notes that point of care testing will likely be available in the near future. That development would permit middle-income and low-income countries with less infrastruture to test children for sickle cell disease early in life mirroring the successful testing programs to prevent mother-to-infant transmission of HIV. The availability of such testing, which might be done testing at the same time as when immunizations are given, could make SCA diagnosis possible in Africa. The goal would be to diagnose SCA so that children in Africa don’t go undiagnosed potentially shortening their lifespan if efforts to prevent complications are not put into place—and that starts with early diagnosis..
Implementing such testing could build on the HIV programs that exist in countries. The recently published Uganda Sickle Surveillance (US3) study 2 is the first of its kind to leverage infrastructure from an HIV program for SCA, as dried bloodspots collected from HIV-exposed infants were also tested for the presence of sickle cell trait or disease.1 That study examined dried spots from 10 regions and 112 districts in Uganda and found a high prevalence, raising the possibility of implementation of a program that would improve the health and lives of Ugandan children.
Hydroxyurea has been identified as a potentially transformative disease-modifying therapy for use in low-resource settings. The drug, originally used in chemotherapy,3 has been given in the US and Europe as a single daily dose and has been associated with decreased mortality.3 Ongoing prospective research to evaluate the feasibility of using hydroxyurea in Africa and similar settings is underway.4
Uganda is considering the steps to create a national sickle cell program. If that happens, at least one country in Africa will take a step toward a new era for non-communicable diseases and newborn screening for a treatable disease that has plagued Africa for too long.
References
1. Piel FB, Patil AP, Hoewes RE et al. Global epidemiology of sickle cell haemoglobin in neonates: a contemporary geostatistical model-based maps and population estimates. Lancet 2013: 381(9681):142-151.
.2. Ndeezi G, Kiyaga C, Hernandez AG et al. Burden of sickle cell trait and disease in the Uganda Sickle Surveillance Study (US3): a cross-sectional study. Lancet Global Health 2016 4(3); e195–e204.
3. Voskaridou F, Christoulas D, Bilaslis A et al. The effect of prolonged administration of hydroxyurea on morbidity and mortality in adult patients with sickle cell syndromes: Results of a 17-year, single center trial (LaSHS). Blood 2010; 115 (12)2354-2363.
4.McGann PT Tshilolo L, Santos B et al. Hydroxyurea therapy for children with sickle cell anemia in sub-Saharan Africa: Rationale and design of the REACH trial. Pediatr Blood Cancer 2016; 61 (1):980104.
