General

Why Genotype Compatibility Matters in Sickle Cell Prevention

Abuja: Sickle Cell Disease (SCD) is a genetic blood disorder that arises when both parents carry the sickle cell gene, creating a 25 per cent chance of transmitting the disease to their offspring with each pregnancy. Globally, an estimated 400,000 babies are born annually with SCD. Medical experts have consistently warned that genotype incompatibility remains the leading cause of new cases and should be a central consideration among intending couples.

According to News Agency of Nigeria, avoiding unions between carriers, especially those with AS and SS genotypes, could greatly reduce new incidences, limiting them to carriers alone. In high-income countries, the average life expectancy for individuals living with SCD is approximately 57 years. However, the situation is far more critical in Sub-Saharan Africa, where between 50 and 80 per cent of children born with Sickle Cell Disease die before their fifth birthday. In contrast, babies born with SCD in the United States have a 95 per cent chance of reaching adulthood. Given these disparities, experts are unanimous that prevention is the most effective and affordable strategy for eliminating the disease.

Prof. Titus Ibekwe, Provost of the College of Health Sciences, University of Abuja, underscored this view during a recent public lecture in Abuja. He emphasised the importance of proactive partner selection based on genotype compatibility. Ibekwe explained that such unions greatly increase the risk of having children with SCD and that sustained adherence to genotype-based partner selection could drastically reduce, if not eliminate, the disease burden. Beyond prevention, Ibekwe noted that treatment options for individuals living with the disease have expanded, including advanced therapies such as bone marrow transplantation and gene therapy.

Also speaking on the burden of SCD in Nigeria is Dr Maureen Achebe, a Clinical Director of Haematology at Harvard’s Brigham and Women’s Hospital and Associate Professor of Medicine at Harvard Medical School. She disclosed that Nigeria bears the highest global burden of the disease. Achebe outlined this as a major public health concern and warned that, with Nigeria’s high fertility rate, the number is expected to rise greatly by 2030. She advocated for newborn screening to detect SCD before symptoms begin, noting that babies appear normal at birth but benefit greatly from early diagnosis and care.

Achebe emphasised the importance of preventive strategies, urging the use of vaccinations, daily folic acid supplements, and proactive infection control. She also recommended hydroxyurea as a proven daily treatment that improves survival rates and reduces the severity of symptoms. While she recognised the promise of gene therapy and bone marrow transplantation, she pointed out their high costs, limited accessibility, and the fact that children under 12 tend to respond better to these treatments.

Achebe warned that the total economic toll of SCD in Sub-Saharan Africa currently stands at over $9.1 billion annually, projected to rise to $10 billion by 2030. She further stressed the need for public awareness, early diagnosis, and cultural education to dispel myths surrounding the disease. In the same vein, Prof. Obiageli Nnodu, Director of the Centre of Excellence for Sickle Cell Disease Research and Training (CESRTA), University of Abuja, highlighted the importance of continued research and capacity building.

Following the 5th Global Congress on Sickle Cell Disease, the centre was upgraded to the National Centre of Excellence for SCD Research. This is a major milestone in Nigeria’s efforts to combat the disease. As the world marks World Sickle Cell Day on June 19, experts are calling for a renewed push toward genotype awareness, partner compatibility, and universal newborn screening as critical tools in the fight to eliminate SCD.