Tag: SICKLE CELL DISEASE

Sickle-Cell Disease: Inherited blood disorder caused by a genetic mutation in haemoglobin. Inheritance of two mutated β-globin genes, one from each parent, leading to the production of abnormal haemoglobin, known as sickle haemoglobin. RBCs become sickle-shaped, rigid, and less efficient in oxygen transport. Leads to anaemia, pain, organ damage, and reduced lifespan. Tribal populations are most vulnerable in India (as per Health Ministry). Symptoms: Chronic anaemia – fatigue, weakness, paleness. Painful crises – sudden, severe pain in bones, chest, limbs. Delayed growth and puberty in children. Treatment: Blood transfusions – manage anaemia and reduce pain crises. Hydroxyurea – lowers frequency of pain and complications. Gene therapy – advanced treatment via CRISPR and bone marrow/stem cell transplant. Prevalence India ranks 2nd globally in SCD prevalence, after Sub-Saharan Africa. SCD is a serious public health issue, especially among tribal communities. High burden due to limited healthcare, misconceptions, and low awareness. ISSSI – India’s First SCD Stigma Scale Indian Council of Medical Research (ICMR) developed the ICMR-SCD Stigma Scale for India (ISSSI). First stigma scale in India, and 4th globally. Two components: ISSSI-Pt (for patients) ISSSI-Cg (for caregivers) Captures multi-dimensional stigma: Familial & reproductive Social disclosure Illness burden Interpersonal & healthcare interaction Government Initiatives Regarding Sickle Cell Disease (SCD) in India: National Sickle Cell Anaemia Elimination Mission (2023): Goal: Eliminate SCD as a public health issue by 2047. Focus on screening, awareness, early detection, and treatment. CSIR developing gene-editing therapies under this mission. National Health Mission (NHM), 2013: Flagship health program with focus on hereditary disorders, including SCD. Activities include: Awareness campaigns Early detection & timely treatment Provision of Hydroxyurea under Essential Medicines List. National Guidelines for Stem Cell Research, 2017: Commercial stem cell therapy banned (except for Bone Marrow Transplant in SCD). Gene editing on stem cells allowed only in lab-based (in-vitro) studies. National Guidelines for Gene Therapy Product Development & Clinical Trials, 2019: Provides roadmap for developing and testing gene therapies. India approved a 5-year CRISPR research project for SCD treatment. State Haemoglobinopathy Mission – Madhya Pradesh: Addresses localised challenges in SCD screening and management. Model for other high-prevalence states. Rights of Persons with Disabilities (RPwDs) Act, 2016: SCD listed among 21 benchmark disabilities. Entitlements for SCD patients: Reservation: 5% in higher education 4% in government jobs 5% in land allocation Free education for children (age 6–18) with benchmark disability.

Tag: SICKLE CELL DISEASE

SICKLE CELL DISEASE

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