Thalassaemia
Thalassemias are a group of inherited blood disorders that manifest as the production of reduced hemoglobin. Symptoms depend on the type of thalassemia and can vary from none to severe, including death. Often there is mild-to-severe , as thalassemia can affect the production of red blood cells and also affect how long the red blood cells live. Symptoms include tiredness, pallor, bone problems, an enlarged , , , and dark urine. A child's growth and development may be slower than normal.
Underlined words are explained — tap any of them.
Symptoms — what it feels like
- ·Feeling tired, pale skin, enlarged , yellowish skin, dark urine
How it's found
- ·Blood tests, tests
Treatment
- ·Blood transfusions, iron chelation, folic acid
Across the other high- (india) gene set (), 5 -'' are actually seen in South Asians () - many European-absent and still clinically 'uncertain'. For , 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 : functional assays or family segregation to move them from 'uncertain' to a real call. Each reclassified is a usable diagnostic result.