Category : Hematology
“Breaking the Cycle: Advancing Equity in Sickle Cell Disease Care”
Introduction
World Sickle Cell Day is celebrated on June 19 each year. This day brings people from around the globe together. It raises awareness of sickle cell disease (SCD), a serious inherited blood condition that affects millions of people. It’s a time to support important causes and recognize the courage of individuals and families facing this ongoing challenge with hope.
Understanding Sickle Cell Disease
A genetic mutation in the HBB gene causes sickle cell disease by disrupting the normal production of hemoglobin. As a result, red blood cells become shaped like sickles and turn sticky and hard. These abnormal cells can block blood flow, leading to severe pain, infections, and damage to organs over time.
Some key points to remember:
- SCD is inherited in an autosomal recessive way. A child can only be affected if both parents have the trait.
- Common symptoms include anaemia, exhaustion, pain flare-ups, swelling in the hands and feet, and repeated infections.
Sickle Cell Disease in India
Sickle Cell Disease (SCD) is often associated with African communities. It is a significant health issue in India, particularly in tribal areas of Maharashtra, Chhattisgarh, Madhya Pradesh, Odisha, Gujarat, and Tamil Nadu.
Estimates show:
- More than 20 million people in India carry the sickle cell gene.
- About 120,000 to 150,000 people in India have the disease.
- Many cases go undiagnosed due to a lack of awareness and early screening.
Efforts by health agencies, including carrier testing, prenatal assessments, and health education, are crucial in tackling the challenges of SCD. For example, Maharashtra has started a program that offers free genetic testing and counseling to communities at higher risk.
Global Efforts and Progress
Recognised as a public health priority by the United Nations in 2008, World Sickle Cell Day encourages a global push towards:
- Early Identification: Newborn screening is crucial for promptly detecting and addressing health issues. Countries like the U.S. and the U.K. have established nationwide programs, and India is making progress to improve its initiatives.
- Standardised Care: The availability of treatments such as hydroxyurea, blood transfusions, and thorough support can significantly improve both life expectancy and quality of life.
- Novel Treatments: Bone marrow transplantation is currently the only curative option available, while gene therapy shows great potential in clinical trials. Ongoing research is crucial to ensure that these treatments are accessible and affordable.
- Equity in Access: Many patients in rural and underserved areas encounter obstacles in receiving care. This day calls for universal healthcare and equal access to treatment, especially in low- and middle-income countries.
Living with Strength and Support
With proper care and support, individuals with SCD can lead active and fulfilling lives. Support networks, educational resources for patients, and health programs in schools are important for reducing stigma and empowering families. These community-driven efforts provide emotional support and offer practical ways to manage the condition and navigate the healthcare system.
Join the Movement
This World Sickle Cell Day, let’s:
- Increase awareness of genetic testing and counselling.
- Promote newborn screening and early intervention.
- Support policies that prioritise care for rare diseases.
- Honour the strength and resilience of people living with sickle cell disease.
Together: From Awareness to Action
World Sickle Cell Day means more than just a date on the calendar. It shows our commitment to creating a better future for people affected by SCD. By raising awareness in communities, improving research efforts, and providing better access to care, we can truly change lives for the better. At JSS Hospital, we work with the global community to ensure that no child or family faces a lack of understanding or treatment. Together, we can break the cycle and help build a healthier, fairer future.
By,
Dr. Praveen Kumar K.S.
Assistant Professor
Department of Medical Genetics
JSS Medical College
Mysuru – 570015