Some Aspects of Haemoglobin Biosynthesis and Their Importance to Medicine

When engrossed with the practical problems of diagnosis and management of manifestations of disease in patients, it is often difficult to appreciate the interconnection between fundamental laboratory investigations and their application to better understanding of clinical conditions. This is an interesting and readable account of the present knowledge of the details of synthesis of hemoglobin, and the manner in which this knowledge accounts for the otherwise mysterious findings in clinical conditions, such as sickle cell anemia and thalassemia. It provides an exceptionally inspiring opportunity for those who choose to look upon medicine as an intellectual experience as well as a humanitarian service. A historical review is given of the remarkable discoveries which have enabled us to penetrate into the wonderful mechanisms by which the body synthesizes the globin and heme portions of hemoglobin. This affords a background for orderly explanation of the seemingly unrelated and greatly varied symptoms and signs of the anemias dependent upon inborn errors of metabolism. For example, in the abnormal globin which produces the sickle cell trait, the difference from normal hemoglobin lies in the substitution of a molecule of the amino acid valine for a molecule of glutamic acid in one of the polypeptide chains of globin. Similarly, relatively slight abnormalities in globin or heme synthesis give rise to the serious consequences one observes in fully developed clinical syndromes. Congenital porphyria likewise results from a defect in the system which controls the utilization of coproporphyrin I in the synthesis of heme. Some of the abnormalities in globin and heme synthesis which occur in natural disease states are being duplicated by in-vitro experiments. The author holds out hope that we may some day be able to control the abnormal synthesis which occurs in afflicted persons, and thus be in a position to make a direct attack upon their disability instead of resorting to all the fumbling means of management now at our disposal.

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