Sickle cell disease is a major health concern
SCD is a significant public health concern in India, especially among the tribal population. Normally, the RBCs that carry blood in the body are doughnut-shaped without a hole in the middle. However, individuals with SCD have deformed RBCs that are curved like a sickle. Apart from affecting oxygen uptake, such RBCs stick together and block blood flow. Symptoms of this condition are severe pain, difficulty in vision, delayed growth in children, and frequent infections. Moreover, this condition can also be life-threatening and lead to several complications such as organ damage, gallstones, leg ulcers, deep vein thrombosis (clots in deep veins), stroke, and blindness.
It is very encouraging for health workers that the Government of India plans to eliminate SCD by 2047. There are many ground realities that pose a major challenge to this mammoth task that is only possible through the government machinery. The prevalence of the disease in marginalized and tribal communities affects several outcome variables such as inadequate access to care, poverty, nutrition, low socioeconomic status and home environment. Sickle cell disease-related mortality is also very high in some regions, with about 20% of children dying before reaching two years of age and 30% of children in tribal areas dying before reaching adulthood.2 There is also a great lack of awareness among affected people and their families, resulting in many patients seeking medical help only at an advanced stage of the disease, when organ damage has occurred. There is also a lack of awareness among physicians and health care workers about SCD and its treatment, which can often lead to a delay in diagnosis.
Mandatory tests for pregnant women
While screening is important to ensure that patients receive timely care, it is equally important that they receive counselling to differentiate between people with SCD and those who are carriers of the disease (having only one copy of the sickle haemoglobin gene). Once diagnosed, several cost-effective strategies are available to change the prognosis of the condition such as vaccination against pneumococcus, penicillin prophylaxis to prevent severe infections, hydroxyurea to reduce sickle and related complications and availability of comprehensive care. The patient should be under the care of a multi-disciplinary team that can accompany the family through challenges that emerge in different age groups. In the absence of a formal referral pathway, many patients in the country are at the mercy of fake doctors. Many patients receive unscreened unsafe blood from professional blood donors, resulting in transfusion-related infections. India was found to have the largest unmet need for blood units in the world.
New treatment options offer hope
Real-world data on sickle cell disease and its research outcomes remain fragmented and scarce. In this situation, new treatment options offer a ray of hope for these patients and their families.
Hydroxyurea is often used to prevent the shrinkage of blood cells and complications arising due to SCD. Although it is not a new drug, its accessibility is low in many communities and is underutilized due to fear of side effects and inadequate awareness.2 Newer drugs such as L-glutamine and crizanlizumab suffer either from access and cost problems in India or have poor data to support their use. In this setting, both bone marrow transplantation and gene therapy are curative treatment options, promising a one-time cure from this chronic disabling disease. Access to bone marrow transplantation for both children and adults has improved significantly in the last decade in India. However, it still requires infusion of an allogeneic product, carrying the risk of graft versus host disease and long-term immune suppression. Gene therapy, on the other hand, is done by modification of the patient’s own stem cells, either by correcting the defective gene or by improving hemoglobin F production. New drugs effective in thalassemia and hemolytic anemia are also finding their way. Sickle cell disease treatment Thus these treatment options bring a lot of hope to the communities affected by this painful disease that affects the quality of life of not only the patient but also the family.
No public health initiative can be impactful unless we address the issues of screening and reducing the burden of the disease in the country. No country with such a disease burden can afford to treat its citizens with the best curative and supportive care options throughout their lives. Hence, large-scale screening initiatives for carrier state and efforts to eliminate the disease, though ambitious, are the only way to tackle this disease. By bringing together multiple stakeholders aligned with the same goal to raise awareness, improve screening, post-test counselling, education and capacity building at various levels, we certainly become a formidable force. Addressing the multiple challenges associated with this condition and adopting evidence-based interventions is essential to reduce the disease burden and ensure that future generations can manage it effectively.
(Author: Dr. Neeta Radhakrishnan, Additional Professor and Head, Department of Pediatric Hematology-Oncology, Post Graduate Institute of Child Health, Noida)
