Rare Diseases Symptoms Automatic Extraction

An evolutionary perspective of how infection drives human genome diversity: the case of malaria.

[alpha-thalassemia]

Infection with malaria parasites has imposed a strong selective pressure on the human genome, promoting the convergent evolution of a diverse range of genetic adaptations, many of which are harboured by the red blood cell, which hosts the pathogenic stage of the Plasmodium life cycle. Recent genome-wide and multi-centre association studies of severe malaria have consistently identified ATP2B4, encoding the major Ca(2+) pump of erythrocytes, as a novel resistance locus. Evidence is also accumulating that interaction occurs among resistance loci, the most recent example being negative epistasis among alpha-thalassemia and haptoglobin type 2. Finally, studies on the effect of haemoglobin S and C on parasite transmission to mosquitoes have suggested that protective variants could increase in frequency enhancing parasite fitness.

Diseases presenting "red blood cell" symptom

  • alpha-thalassemia
  • cholangiocarcinoma
  • phenylketonuria
  • severe combined immunodeficiency
  • zellweger syndrome

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