APHL provides technical assistance to international partners to prevent and reduce the complications of sickle cell disease (SCD) and other hemoglobinopathies.
SCD is a genetic condition in which the red blood cells contain hemoglobin S, an abnormal form of the oxygen-carrying protein. Individuals who inherit sickle-cell genes from both parents are homozygotes and develop SCD. Those who inherit the gene from only one parent have the sickle-cell trait (SCT) and are carriers, meaning they have no symptoms, but can pass the gene on to their offspring.1
SCD is the most prevalent genetic disease in the World Health Organization African Region. In many countries, 10%–40% of the population carries the sickle-cell gene resulting in an estimated SCD prevalence of at least 2%.2
Newborn screening (NBS) allows early identification of infants with SCD, so that simple, cost-effective interventions can be implemented. These interventions dramatically reduce infant morbidity and mortality, but they are only effective if key constituencies understand the effects of SCD and SCT, know the benefits of early intervention and recognize the value of a national NBS program.
Genetic Education and Counseling for Sickle Cell Conditions in Ghana
Since 1993 the Sickle Cell Foundation of Ghana has directed a pilot NBS project for SCD in that country’s second largest city, Kumasi, and in Tikrom, a nearby rural community. Although the pilot project has been underway for many years, there is limited understanding of community issues in establishing and implementing nationwide newborn screening and appropriate family counseling.
To address this gap, APHL and CDC, in collaboration with international experts from the United Kingdom, Ghana, Nigeria and the US, conducted formative research and convened a community forum in 2011 and 2013. Results showed that genetic counseling and health education would be critical to nationwide expansion of NBS for SCD. Affected individuals, health care workers and the public could benefit from these services.
In response, the partners designed a culturally-appropriate, evidence-based Sickle Cell Genetic Counselor Training and Certification Program, which was launched in June 2015 at a workshop in Accra attended by 15 SCD genetic counselors. Plans are underway for additional workshops that will include leaders of religious and traditional institutions who are crucial stakeholders as lay counselors.
Moving forward, the Sickle Cell Genetic Counselor Training and Certification Program offers a model for other African countries seeking to develop and implement NBS programs for SCD.
For more information, contact Jelili Ojodu, MPH, director, Newborn Screening and Genetics, 240.485.2772, firstname.lastname@example.org
1 Regional Committee for Africa, Sixtieth session: Malabo, Equatorial Guinea, 30 August–3 September 2010. Sickle Cell Disease: A Strategy for the WHO African Region – Report to the Regional Director.