The red blood cell as a biopsy tool.
During the past several years, there has been much emphasis on understanding the relationship between abnormalities in RBC metabolism and hereditary haemolytic anaemias. More recently, attention has focused on utilizing erythrocyte biochemical abnormalities in the diagnosis of systemic disorders not necessarily associated with altered RBC function. In this chapter, we have enumerated several non-erythrocytic clinical conditions clearly associated with altered RBC metabolic products or enzyme activity. Specifically, we have described the use of erythrocytes (1) to diagnose inborn errors of metabolism, (2) to assess many nutritional disorders, (3) to monitor hyperglycaemia in patients with diabetes mellitus, and (4) to discriminate between essential and non-essential hypertension. As Eric Ponder said many years ago (Ponder, 1948), 'I have been told that I tend to speak of the red cell as if it were a microcosm, as if an understanding of its nature and properties would include an understanding of nearly everything else in the cellular world. To some extent this is true.' When the list of conditions for which the red cell can be used as a biopsy tool is reassessed several years from now, most assuredly many new clinical conditions will be added to the diseases we have discussed. For example, our knowledge of normal membrane structure and function currently is in its infancy, yet it already appears that analysis of RBC membranes may be useful in detecting certain neurological disorders such as muscular dystrophy (Roses, Herbstreith and Appel, 1975). Needless to say, to the delight of Dr Eric Ponder, the utility of the erythrocyte as an investigative tool appears to be without limit.
D001706:Biopsy; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis; D004912:Erythrocytes; D005693:Galactosemias / Q000175:diagnosis; D006073:Gout / Q000175:diagnosis; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D009963:Orotic Acid / Q000652:urine; D010732:Phosphofructokinase-1 / Q000172:deficiency; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis; D011687:Purines / Q000378:metabolism; D011743:Pyrimidines / Q000378:metabolism; D012257:Riboflavin Deficiency / Q000175:diagnosis; D013832:Thiamine Deficiency / Q000175:diagnosis; D014305:Triose-Phosphate Isomerase / Q000172:deficiency; D026681:Vitamin B 6 Deficiency / Q000175:diagnosis
D011687:Purines; D011743:Pyrimidines; D009963:Orotic Acid; D010732:Phosphofructokinase-1; D014305:Triose-Phosphate Isomerase