Sickle cell disease (SCD) occurs at a much higher rate among people of Afro-Caribbean descent than in other ethnicities. When I was working as a doctor in Borneo in Southeast Asia, I did not witness a single case of SCD. The number of SCD cases one sees is heavily dependent on the demographic makeup of any given location.
In countries such as the Democratic Republic of the Congo (DRC), the fight against SCD takes up significant healthcare resources. “The [DRC] is one of the three African countries most affected by SCD, counting 30,000–40,000 newborns with the [sickle hemoglobin] trait each year,“ Kasai and colleagues wrote in a meta-analysis published in Hematology.
Read more about SCD etiology
In this article, we will take a closer look at the difficulties in managing SCD in the DRC.
Many Needs, Limited Resources
SCD is a lifelong chronic disease for which the only potential cure is hematopoietic stem cell transplant, which most patients are unlikely to receive. Hence, patients likely need to take medications and attend follow-ups for the duration of their lives. The regime itself is demanding, let alone dealing with painful crises that often require hospitalization.
SCD has a list of severe manifestations: frequent painful episodes, stroke, renal disorders, anemia, cardiopulmonary disorders, bone infection and infarction, and multiple chronic organ disease. Given the wide range of symptoms, the proper management of an SCD patient must be conducted in a multidisciplinary context.
In practice, this means physicians from different disciplines conducting regular follow-ups with the patient if significant pathology develops in their area of expertise. This also means physicians from different disciplines talking to each other to ensure harmony of treatment strategies.
There is also the issue of providing genetic counseling to couples who are hoping to become pregnant. Dokekias wrote, “In light of our observations, screening for sickle cell disease should also be systematic upstream during the premarital check-up in order to provide couples at risk with appropriate genetic counseling to guide their choice.”
In other words, SCD is a disease that requires significant healthcare infrastructure and incurs significant cost. With regards to the situation in the DRC, “Managing all complications is a big challenge due to a lack of infrastructure and sufficient qualified caregivers,” Kasai wrote. “Prevalence and mortality data on SCD in children are challenging due to low diagnostic testing and a lack of specific medications.”
Also, there appears to be a lack of knowledge about this disease; a study demonstrated that 44.9% of patients believed that SCD had a demonic origin, and 77.8% believe that traditional and faith healing methods were more suitable than formal health care.
The Value of Neonatal Screening
There is another front in the fight against SCD in the DRC: neonatal screening. Dokekias and colleagues conducted a study to collect data on neonatal screening for SCD in the DRC to determine the prevalence of the disease and the hemoglobin variants among newborns.
They ran a cross-sectional descriptive study from October 1, 2019, to March 31, 2020, over the entire span of the DRC. They obtained permission from parents to study their child if their child was a full-term newborn aged 5 days or less. A total of 2897 newborns were screened. Blood samples were taken at the heel and analyzed.
Among the results reported were:
- There was a 20.8% prevalence of abnormal hemoglobin, primarily represented by hemoglobin S (97.71%). Hemoglobin C was present in 0.82% of abnormal hemoglobin cases.
- The national prevalence of sickle cell trait was 19.43%.
- The national prevalence of major sickle cell syndromes was 1.35%.
- The prevalence of major sickle cell syndromes was heterogeneous; some regions reported a higher prevalence than observed at the national level.
“The study was conducted with the aim of making neonatal screening systematic,“ the research team wrote, adding, “It is a project that needs funding to be sustainable.”
Read more about SCD patient education
The study conducted by Dokekias and colleagues demonstrates just how prevalent an issue SCD is in the DRC. It also highlights the value of neonatal screening in better identifying the true prevalence of this disease. Hence, countries like the DRC that have populations that are at a higher risk of developing SCD should aim to conduct neonatal screening in as many centers as possible.
Delivering Adequate Care
Once a patient is diagnosed with SCD, can they expect to be treated according to the highest standards throughout life? As mentioned earlier, SCD incurs a significant disease burden on patients and the cost of lifelong care is immense. Hence, it is imperative that governments in vulnerable countries, such as the DRC, adequately fund SCD healthcare services.
“The scarcity of financial resources and the poverty of parents make it difficult to assure adequate care of [hemoglobin SS disease] screened children,” in the DRC, Kasai et al wrote.
Lastly, we need to be able to cut through the statistics and the noise to get to the people at the very heart of the issue: SCD patients themselves. It is an enormous challenge to live with a disease that begins at birth and produces brutal, painful crises throughout life, and they deserve our utmost care and support.
Kasai ET, Alworong’a Opara JP, Ntokamunda Kadima J, et al. Overview of current progress and challenges in diagnosis, and management of pediatric sickle cell disease in Democratic Republic of the Congo. Hematology. 2022;27(1):132-140. doi:10.1080/16078454.2021.2023399
Dokekias AE, Ocko Gokaba LT, Louokdom JS, et al. Neonatal screening for sickle cell disease in Congo. Anemia. 2022;2022:9970315. Published online February 3, 2022. doi:10.1155/2022/9970315