(GIST OF SCIENCE REPORTER) SICKLE CELL DISEASE

(APRIL-2024)

Genetic therapies have created a lot of promise for treating SCD, but also require the same amenities, which are currently beyond of reach for people most impacted by the condition.

India has a significant burden of sickle cell disease (SCD), ranking third globally in terms of the number of births affected by this condition.
The prevalence of SCD births is concentrated in tribal communities within India. This highlights the existing geographical and socioeconomic disparities in healthcare access and awareness related to SCD.

Genetic Mutation: Sickle Cell Disease (SCD) is an inherited condition caused by a genetic mutation affecting red blood cells. This mutation alters the shape of red blood cells from their usual round form to a sickle-like crescent.
Complications: These abnormally shaped cells become rigid and struggle to navigate blood vessels efficiently. This can lead to various complications, including anaemia (causing fatigue and weakness), organ damage, recurrent severe pain episodes, and a shortened lifespan.
According to Ministry of Health, marginalized tribal communities are most susceptible to SCD.
Symptoms: Common symptoms include chronic anaemia, frequent and intense pain episodes (particularly in bones, chest, back, and limbs), and delayed growth and puberty.
Treatment Options: Treatment options include blood transfusions to address anaemia and reduce pain crises, hydroxyurea medication to decrease pain episode frequency and prevent long-term complications, and potentially curative therapies like stem cell or bone marrow transplantation using advanced CRISPR technology.

Limited Diagnosis and Treatment: A lack of public and healthcare provider awareness about SCD leads to delayed diagnoses and inadequate treatment plans. This is further compounded by the absence of systematic newborn screening and early detection programs.
Healthcare Infrastructure Disparity: Many regions, particularly rural and tribal areas, lack specialized healthcare facilities and trained medical personnel equipped to manage SCD effectively.
Financial Burden and Access Issues: The high cost of medications, regular check-ups, and potential hospitalizations creates a significant financial burden for patients and families. Additionally, inconsistent medication availability and geographical/socioeconomic barriers can hinder access to essential treatments and care.