Arno G. Motulsky, M.D., F.A.C.P.
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The clinical implications of mutations can best be demonstrated by the hemoglobinopathies and enzymopathies. Mutations affecting hemoglobins and enzymes can have three types of effect: molecular alterations causing disease, such as certain hemolytic anemias, polycythemias, and methemoglobinemia; molecular alterations, causing disease only in certain environments, such as drug sensitivities caused by hemoglobin and glucose-6-phosphate dehydrogenase (G6PD) variants; molecular alterations without clinical consequences. Over 100 hemoglobin mutations and over 80 G6PD variants are known. Many are rare; others are frequent in certain populations and owe their origin to a selective survival advantage in the past. The clinical and genetic biology of
Motulsky AG. Genetic Aspects of Hemoglobins and Red Cell Enzymes.. Ann Intern Med. ;74:844. doi: 10.7326/0003-4819-74-5-844_2
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Published: Ann Intern Med. 1971;74(5):844.
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