G6PD deficiency
Glucose-6-phosphate dehydrogenase (G6PDD), also known as favism, is the most common deficiency worldwide. It is an inborn error of that predisposes to red blood cell breakdown. Most of the time, those who are affected have no symptoms. Following a specific trigger, symptoms such as yellowish skin, dark urine, shortness of breath, and feeling tired may develop. can include anemia and newborn . Some people never have symptoms.
Underlined words are explained — tap any of them.
Symptoms — what it feels like
- ·Yellowish skin, dark urine, shortness of breath
Causes — why it happens
- · ( )
Treatment
- ·Avoiding triggers, medications for , stopping offending medication, blood transfusions
Complications
- ·, newborn
Across the other high- (india) gene set (), 17 -'' are actually seen in South Asians () - many European-absent and still clinically 'uncertain'. For g6pd , 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 g6pd : functional assays or family segregation to move them from 'uncertain' to a real call. Each reclassified is a usable diagnostic result.
The enzyme flaw that turns a routine malaria cure into an emergency — with India-only variants the reference data misses
affects about 1.9% of Indians (up to ~6% in some groups). The catch: primaquine, the drug that clears relapsing P. vivax malaria, triggers dangerous red-cell breakdown in deficient people — so India's malaria-elimination push runs straight into a wall.
India's malaria-endemic zones overlap its tribal belts, which carry both the most malaria and the most . And the are partly India-specific — Orissa and Kalyan-Kerala alongside the Mediterranean type. Crucially, the urban South-Asian samples in global reference panels () largely miss these tribal variants: a blind spot inside the blind spot.
The major are catalogued, and point-of-care testing before primaquine is the known safeguard. The gap is coverage: tribal and India-specific variants are under-represented in reference data, so a 'normal' result can still miss real .
Sequence across under-sampled Indian tribal populations, map the India-specific , and validate whether standard tests catch them before radical-cure primaquine is given.
- Molecular spectrum of G6PD deficiency in Indian populations, Blood Cells Mol Dis 2020 ↗
- Haemoglobinopathies & G6PD in vulnerable tribal groups, Odisha (malaria-endemic), 2022 ↗
- D2I2 rare-pathogenic South-Asian scan; the tribal-sampling gap is itself a flagged whitespace