Beutler E
JAMA. 1975 Sep 15;233(11):1184-8.
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.
人类红细胞（RBCs）存在着极大程度的遗传多样性。所出现的变异性可能导致贫血、发绀、红细胞增多症，或者可能不引起血液学改变。影响血红蛋白的遗传异常包括镰状细胞疾病、不稳定血红蛋白病、与红细胞增多症或高铁血红蛋白血症相关的血红蛋白病，以及α和β地中海贫血。红细胞最常见的酶异常是葡萄糖 - 6 - 磷酸脱氢酶缺乏症，但已发现许多其他导致溶血性贫血的酶缺陷。红细胞酶缺乏在非血液学疾病的诊断和饮食状况评估中也可能很重要。
