Sickle cell disease (SCD) remains a cause for concern in India, with figures placing the country as having the second highest burden in the world after Nigeria.
Following World Sickle Cell Disease Day 2022, observed on the 19th June, awareness campaigns took place on an international level.
“There is an urgent need to notify sickle cell disease,” says Gautam Dongre, Secretary of the National Alliance of Sickle Cell Organisations (NASCO). “SCD as a condition is often misdiagnosed as any other blood disorder. This delays treatment. Moreover, in urban settings, there is a lack of awareness about this condition. In remote areas, the lack of proper medical infrastructure and knowledge of the healthcare workforce make timely detection, screening and treatment a challenge,” he adds.
Sickle cell disease is an inherited genetic condition that affects a single gene. Abnormal alleles of the gene cause defective copies of the haemoglobin protein — responsible for the transport of oxygen — to be formed.
Heterozygous individuals — or individuals with only a single allele of the defective gene, known as sickle cell trait — are referred to as carriers. These individuals may have very mild symptoms, or be entirely asymptomatic. As such, two individuals may opt to have children without knowing whether they possess abnormal genes. In these situations a child has the potential to have two copies of the abnormal gene. The child will then have full, symptomatic sickle cell disease.
The defective haemoglobin can lead to red blood cells taking up a sickle-like shape, rather than their typical round shape. Issues can arise when these sickle-shaped cells interconnect with other malformed red blood cells. This can lead to blood clotting, a condition which can result in symptoms such as severe pain, but can also cause life threatening complications such as strokes and organ failure.
India has around eighteen million people with sickle cell trait and 1.4 million patients with sickle cell disease. Chhattisgarh, West Bengal, Uttar Pradesh, Maharashtra, Madhya Pradesh, Jharkhand, Gujarat, Odisha, Kerala and Rajasthan show a notably higher prevalence of SCD than the average for the country. Collectively, these are referred to as the sickle cell belt. The disease is more common among tribal communities, however, due to migration SCD is becoming more common elsewhere.
One theory on why the disease is so abundant — termed the “malaria hypothesis” — states that the prevalence in Africa, as well as other regions in areas such as rural India, may be far higher due to a selective effect for individuals with a single sickle cell gene. These studies have assessed infant mortality rates in high prevalence regions and found slight decreases in deaths. This, it was found, is due to a protective effect the heterozygous form of the gene confers against the effects of malaria. Therefore, areas with high levels of malaria typically have higher numbers of individuals with SCD.
According to one study “An estimated 300,000–400,000 babies with sickle cell anaemia (SCA) are born every year, about three quarters of them across a geographical band in Africa stretching from Senegal to Madagascar, mirroring the continent’s malaria endemicity.”
Likewise in India, SCD is typically more common among rural populations. As with other conditions, the disparity between rural and urban healthcare infrastructure causes severe issues in availing healthcare services, however, many are still reluctant to seek healthcare for SCD.
Stigma is a major issue for many with the disease. If a person is known to be a carrier of the gene that causes SCD, it may harm their marriage prospects as their children may also have the gene. Due to this, many are opting not to be screened for the gene, and so, enter relationships and marriages without being aware of the possibility of any resultant child developing homozygous SCD.
Screening is vital in combating the disease as the earlier a person is found to have SCD, the better the prognostic outlook. Ideally, universal newborn screening would be implemented, as with the right medication and prophylactic options in place, a child with SCD can usually live a normal life. Currently, India has no centralised database of SCD carriers.
“Initiatives such as intensive prenatal and newborn screening must be mandatory along with providing Pneumococcal vaccination to adult patients under doctor’s guidance…Managing complications like avascular necrosis (AVN), acute chest syndrome, stroke becomes a critical phase, proactive steps must be taken to awareness screening, and treatment options”, said Dongre. “We need to re-think the model of care for SCD. In my experience of dealing with patients, proper and timely treatment has led to normal life expectancy and almost seventy-eighty percent enhanced life quality for patients. Timely, comprehensive, and appropriate treatment is of utmost importance.”
Overcoming stigma, and increasing knowledge and awareness of the disease will be vital to reducing case numbers and providing proper care for those who have SCD. Centralised efforts towards screening programmes and registers of patients will also be needed if progress is to be made.
