Steinberg M H, Adams J G
South Med J. 1978 Apr;71(4):413-6. doi: 10.1097/00007611-197804000-00021.
Sickle cell trait is present in about 8% of black Americans, and clinically significant sickling disorders are common in this population. These disorders can be accurately defined by combinations of quantitative hemoglobin electrophoresis at alkaline pH, citrate agar electrophoresis, solubility tests for sickle hemoglobin, fetal hemoglobin measurements, blood counts, erythrocyte indices and family studies. Unusual types of sickling hemoglobinopathies may require more extensive, specialized study. An unquestioned diagnosis should be prerequisite for any subsequent genetic counseling.
镰状细胞性状在约8%的美国黑人中存在，临床上有意义的镰状细胞疾病在该人群中很常见。这些疾病可以通过碱性pH值下的定量血红蛋白电泳、柠檬酸盐琼脂电泳、镰状血红蛋白溶解度测试、胎儿血红蛋白测量、血细胞计数、红细胞指数及家族研究等组合来准确界定。不常见类型的镰状细胞血红蛋白病可能需要更广泛、专门的研究。明确的诊断应该是任何后续遗传咨询的前提条件。
