By Sola Ogundipe
Sickle Cell Disorder is one of the most common chronic yet treatable genetic disorders in Nigeria and several other parts of the world. Nigeria has the world’s largest population of people with the disorder that is caused by the presence of an abnormal form of haemoglobin in the red blood cells—haemoglobin S (HbS) instead of haemoglobin A (HbA).
Although preventable, globally, SCD affects approximately 300,000 babies born each year that inherit the sickle cell gene. In Nigeria, an estimated 150,000 babies are born yearly with the disorder. This happens when a baby inherits two copies of a defective gene from each patient.
In the process, the red blood cell collapses, forming a crescent moon-like shape, which makes it difficult for oxygen to be transported to all parts of the body. SCD causes severe pain, stroke, organ failure, and other complications, including death.
The United Nations has designated SCD as a global public health problem. While simple public health measures such as newborn screening, vaccinations, and early interventions have been proven to greatly improve childhood survival in several countries; SCD continues to be a major global public health issue. It remains a major killer of infants and children in the developing world, particularly in sub-Saharan Africa, where an estimated 50–90 percent of infants born with SCD will die before their fifth birthday.
The recurrent pain and complications caused by the disease can interfere with many aspects of the patient’s life, including education, employment and psychosocial development. About 3.6 million Nigerians (2 per cent of the population) is living with the disorder, while at least 40 million Nigerians representing roughly 25 per cent of the population, are believed to have the sickle cell trait or are carriers of the sickle cell gene (AS).
But over the years, living with SCD has become more bearable thanks to advancements in prevention and management of the disorder, careful counselling, general public knowledge, early detection, and steps towards improving quality of life of patients.
Today, however, SCD is no longer a death sentence. People are now living better quality life even to ripe old age with the disorder.
On this year’s World Sickle Cell Day, June 19, the American Society of Hematology (ASH) held a webinar with global health experts, the media, and its Sickle Cell Disease Coalition partners to address the urgent need to raise global awareness about the disorder.
The Society has been long committed towards raising awareness of SCD towards improving health outcomes for people with the disease from infant to adulthood.
During the webinar entitled: “Global Action: Improving Health Outcomes for Sickle Cell Disease,” ASH experts highlighted the essence of Newborn Screening (NBS) in reducing the SCD mortality rate in developed and developing countries.
In the US and other developed countries, newborn screening programmes are conducted routinely, which has resulted in a reduction in the SCD mortality rate to less than 1 percent. However, in developing countries particularly Nigeria where the disorder is prevalent, newborn screening programmes are yet to be established, and the acceptability of such programmes by the parents of newly delivered infants is undocumented.
Speaking on the importance of screening newborn children for sickle cell disease, the Director, Newborn Screening and Genetics at Association of Public Health Laboratories, Dr. Jelili Ojodu described the action as a lifesaving move.
“There are thousands of babies that are not screened for sickle cell disease around the world and we want to be able to make an impact moving forward. We encourage Ministries of Health (especially in developing countries) to invest in newborn screening systems that will save lives and reduce the burden of Sickle Cell Disease.
“It is all about saving lives. Sickle Cell disorder is not a death sentence,” he noted.
Experts also discussed recent efforts to distribute two new videos—a public service announcement and short documentary—that address the need for newborn screening and counter the prevailing myths about the disease in sub-Saharan Africa.
According to ASH President, Dr. Alexis A. Thompson, of the Ann and Robert H. Lurie Children’s Hospital of Chicago: “One of the greatest hurdles we face in curbing the heartbreaking rate of mortality caused by sickle cell disease in sub-Saharan Africa is lack of awareness of the condition and the simple, relatively inexpensive interventions that can save lives. It starts with early recognition, ideally through newborn screening.
“Our hope is that by using these videos to dispel myths and tell parents that SCD is manageable, we can encourage families, communities and public officials to screen newborn children for sickle cell disease so that they can receive critical, accessible treatment that will help them survive.”
The videos highlight efforts currently underway in Ghana, a country with a high incidence of SCD, to help dispel myths and eliminate the stigma of the disease. The videos show families the steps they can take to ensure that children born with SCD are diagnosed promptly so they can get proper medical care. In Ghana, newborn screening and educational efforts have significantly decreased mortality rates.
“Unfortunately, despite the work we’ve done in Ghana and across Africa, much remains to be done to reduce infant mortality—90 percent of children with SCD in resource-poor countries will not survive to adulthood,” said Dr. Kwaku Ohene-Frempong, of the Sickle Cell Foundation of Ghana.
“In Ghana, we’ve seen that simple public health measures, especially newborn screening, help children lead more normal lives. In the first 10 years of newborn screening, we made dramatic improvements in reducing sickle cell-related childhood mortality.”
The American Society of Hematology is the world’s largest professional society of hematologists dedicated to furthering the understanding, diagnosis, treatment, and prevention of disorders affecting the blood.
The Society has made conquering SCD around the world top priority and is leading efforts to translate research into cutting-edge therapies and cures, increase access to care, educate health care providers, and encourage policymakers to make strides in universal screening and care efforts.
In 2016, the Society founded the Sickle Cell Disease Coalition to amplify the voice of the SCD stakeholder community, promote awareness, and improve outcomes for individuals with SCD globally.
The Coalition is focused on promoting research, clinical care, education, training, and advocacy while providing a platform to encourage stakeholders to work together to develop and implement important projects and activities that will ultimately help the SCD community and improve outcomes for individuals with the disease.