SICKLE CELL ANAEMIA

1. Context 

2. Key Points

• Way back in 2019, Prof Sudam Laxman Kate, emeritus scientist with the Indian Council of Medical Research (ICMR) and Former Deputy Director of the Tribal Health Research project, at B.J. Medical College, Pune, was crusading to help tribals suffering from Sickle Cell Anaemia.
• He has done pioneering research in Sickle Cell Disease, especially among tribal populations of India.
• He was the first scientist to find Sickle Cell disorder in the tribes of north Maharashtra in 1972. Diseases of the Poor often get neglected in discussions on health.
• He set up two centres dedicated to Sickle Cell anaemia in northern Maharashtra and a community health care centre in 1998 called "Sickle cell Dawakhana" in the remote Satpuda, under the aegis of Maharashtra Arogya Mandal Hadapsar, Pune.

3. Nature of the disease

• It is an inherited genetic disease where a point mutation in haemoglobin makes it abnormal and prone to structural change.
• This causes the red blood cells to take an abnormal "sickle" shape, which obstructs blood flow.
• This can lead to severe haemolysis and persistent anaemia and affects the functioning of other organs in the later stages.
• Common symptoms are anaemia, jaundice and liver and spleen enlargement.
• In severe cases, patients have debilitating orthopaedic conditions called avascular necrosis of the femur.
• The disease can be very severe and reduces the quality of life. Patients have very painful conditions called "crisis".
• There is no complete cure. The only way to help the patient is by providing symptomatic treatment and pain management. Improve nutritional status.
• Hydroxyurea drug has been shown to reduce morbidity.
•  Currently, Sudham Kate Research Foundation is conducting a clinical trial of this drug on patients in collaboration with ICMR to see its efficacy in Indian Sickle Cell patients.

4. The Burden of disease

• The disease burden from Sickle Cell anaemia in India is prevalent in tribal populations, especially in Maharashtra.

• Approximately more than three lakh patients in the tribal areas are affected and it is most prevalent in the central India belt covering states like Gujarat, Maharashtra, Chhattisgarh, Orissa and parts of Bengal.
• There are pockets in the South, Tamil Nadu, Kerala and parts of Telangana.

5. Prevention

• There is a lack of screening awareness and inadequate screening centres/ facilities in tribal and rural areas. Also, failure to access primary healthcare is a concern.
• It is a genetic disease and the only prevention lies in a timely diagnosis through cost-effective and large-scale screening camps along with marriage counselling.
• Prenatal diagnosis can also play an important role.

• Resource utilisation and implementation of projects at the grassroots level and collaboration between government and NGOs are the keys.
• Treating more than patients over the years in remote inaccessible tribal areas is the main challenge was the lack of adequate medical laboratory infrastructure.
• The development of point-of-care indigenous, low-cost, simple and minimally invasive diagnostic tests for hemoglobinopathies could be performed at the homes of these remote tribal populations.