Presentation May 20th 2016

Newborn Screening for Sickle Cell Disease (SCD) in Sub-Saharan Africa

Sickle cell disease (SCD) encompasses a group of inherited hematological disorders that feature a predominance of sickle hemoglobin (HbS) in the red blood cells. The resulting abnormal curvilinear (sickled) erythrocyte blocks blood flow, which leads to serious morbidity and early mortality. SCD represents a substantial burden of disease worldwide, affecting over 400,000 newborns annually. Although newborn screening for SCD is well-established in North America and Europe, most of the global burden exists in countries with limited resources, especially sub-Saharan Africa, where newborn screening is not yet available. Accurate diagnosis of SCD is fairly simple in the newborn period, using a variety of analytical techniques including routine hemoglobin electrophoresis, isoelectric focusing, capillary electrophoresis, HPLC, antibody-based HbS detection, and DNA-based techniques. Early diagnosis of SCD is essential to provide education and offer preventative treatments, including penicillin prophylaxis and pneumococcal immunization, and is associated with prolonged survival.

The World Health Organization has recently issued directives for countries in sub-Saharan Africa to develop newborn screening, and to establish care and treatment programs, but most countries lack training and expertise. Over the past 4 years, we have worked with teams in Angola and Uganda to develop pilot newborn screening programs for SCD. In Angola, we created a novel 3-way academic-industry-government partnership for a pilot screening program. This project documented an expectedly large burden of disease, trained local laboratory and healthcare providers, and demonstrated that simple interventions are life-saving. In Uganda, we established a different 3-way partnership between two academic institutions and government. A large surveillance study documented a high burden across the country, which varied by region and district, and the data have led to a new targeted screening effort. Together these programs demonstrate the feasibility and benefits of newborn screening for SCD in sub-Saharan Africa.

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