Inherited erythrocyte metabolic and membrane disorders.
Erythrocyte metabolic defects which lead to hemolytic anemia are abnormalities of the glycolytic pathway, of the pentose phosphate pathway, and of nucleotide metabolism. Hemolytic anemias may also be caused by inherited defects involving the membrane and membrane abnormalities secondary to intracellular abnormalities and inclusions. The more common disorders are focused upon, and newer findings impacting on the field are discussed.
D000050:Acanthocytes; D000743:Anemia, Hemolytic / Q000235:genetics*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic; D000755:Anemia, Sickle Cell / Q000235:genetics; D004910:Erythrocyte Membrane / Q000032:analysis / Q000503:physiopathology*; D004912:Erythrocytes / Q000378:metabolism* / Q000503:physiopathology*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000097:blood / Q000378:metabolism; D006019:Glycolysis; D006366:Heinz Bodies; D006454:Hemoglobins; D006801:Humans; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000235:genetics; D010428:Pentosephosphates / Q000378:metabolism; D011770:Pyruvate Kinase / Q000172:deficiency; D013103:Spherocytosis, Hereditary / Q000235:genetics; D014305:Triose-Phosphate Isomerase / Q000172:deficiency
D006454:Hemoglobins; D010428:Pentosephosphates; D011770:Pyruvate Kinase; D014305:Triose-Phosphate Isomerase