Sickle cell disease
Sickle cell disease (SCD), also simply called sickle cell, or sickle cell is a group of inherited hemoglobin-related blood disorders. The most common type is known as sickle cell . Sickle cell anaemia results in an abnormality in the oxygen-carrying found in red blood cells. This leads to the red blood cells adopting an abnormal sickle-like shape under certain circumstances. With this shape, they cannot deform as they pass through capillaries, causing blockages.
Underlined words are explained — tap any of them.
Symptoms — what it feels like
- ·Attacks of pain, , swelling in the hands and feet, ,
Causes — why it happens
- ·: inherited gene
How it's found
- ·Blood test
Treatment
- ·Vaccination, , high fluid intake, folic acid supplementation, pain medication, blood transfusions
Complications
- · pain, , aseptic bone , gallstones, leg , priapism, , vision problems, kidney problems
Outlook
- ·Life expectancy 40–60 years (developed world)
Across the other high- (india) gene set (), 5 -'' are actually seen in South Asians () - many European-absent and still clinically 'uncertain'. For sickle cell disease, that's a pool of computationally-damaging, India-relevant, clinically-unresolved variants no one has systematically characterised.
A study that would help: Take the South-Asian-observed, European-absent, ClinVar-uncertain in and triage them for sickle cell disease: functional assays or family segregation to move them from 'uncertain' to a real call. Each reclassified is a usable diagnostic result.
A national mission, a tribal burden, and a milder Indian form the textbooks learned from Africa
Sickle cell disease in India is concentrated in tribal communities — around 1 in 86 births in parts of central India, where up to 20% of affected children die before their second birthday. India launched a National Sickle Cell Elimination Mission in 2023; by late 2024 it had screened over 42 million people and identified more than 160,000 with the disease and over a million carriers.
The Indian sickle gene sits on the 'Arab-Indian' haplotype, which raises fetal and makes the disease clinically milder than the African forms most textbooks describe. Treatment and counselling calibrated to African severity can misjudge the Indian course. And because the is tribal, the urban South-Asian samples in global reference panels () largely miss these populations.
Carrier rates and the haplotype are documented, and the national mission is building at scale. The gap is depth on the tribal populations themselves — the modifiers of severity (fetal- genes, co-inherited alpha-thalassemia) that would let counselling predict who runs a mild versus a severe course.
In tribal cohorts, map the modifiers (BCL11A / HBS1L-MYB fetal- , alpha-thalassemia status) that separate mild from severe Indian sickle disease — turning a result into a .
- Casting light on the national mission to eliminate sickle cell disease in India, PMC 2024 ↗
- Sickle cell disease in Indian tribal population: multi-centre SCD registry, Blood Cells Mol Dis 2024 ↗
- D2I2 rare-pathogenic South-Asian scan (HBB); tribal-sampling gap is itself a flagged whitespace