Genetic disorders of human red blood cells
E. Beutler
Human red blood cells (RBCs) are subject to an enormous degree of genetic
diversity. The variability that occurs may result in anemia, cyanosis,
polycythemia, or may cause no hematologic alterations. Genetic
abnormalities affecting hemoglobin include the sickling disorders, the
unstable hemoglobinopathies, hemoglobinopathies associated with
polycythemia or with methemoglobinemia, and the alpha- and
beta-thalassemias. The most common enzymatic abnormality of RBCs is
glucose-6-phosphate dehydrogenase deficiency, but defects of many other
enzymes leading to hemolytic anemia have been identified. Deficiences of
RBC enzymes may also be important in the diagnosis of nonhematologic
disease and in the evaluation of dietary status.