Info

Sickle-cell anemia

Abnormal hemoglobin causes deformation of red blood cells, which can become lodged in capillaries; also confers resistance to malaria.

1/625 of sub-Saharan African origin

Cystic fibrosis

Defective chloride channel (CFTR) in epithelial cells leads to excessive mucus in lungs.

1/2500 of European origin

Phenylketonuria (PKU)

Defective enzyme in phenylalanine metabolism (tyrosine hydroxylase) results in excess phenylalanine, leading to mental retardation, unless restricted by diet.

1/10,000 of European origin

Tay-Sachs disease

Defective hexosaminidase enzyme leads to accumulation of excess sphingolipids in the lysosomes of neurons, impairing neural development.

1/1000 Eastern European Jews

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