Vichinsky E P, Lubin B H
Pediatr Clin North Am. 1980 May;27(2):429-47. doi: 10.1016/s0031-3955(16)33860-3.
The pathophysiology, laboratory investigation, clinical manifestation, and treatment for the most common serious genetic disease in the United States have been discussed. It is unfortunate how uninformed the medical community is about this illness. Treatment for a chronic disease such as sickle cell disease requires that the physician be knowledgeable and compassionate. Although there is no cure, a great deal can be done to help patients cope with their illness. Recent advances in prevention of pneumococcal infection, proper use of transfusion therapy, and prenatal diagnosis are such examples.
文中讨论了美国最常见的严重遗传病的病理生理学、实验室检查、临床表现及治疗方法。医学界对这种疾病了解甚少，实在令人遗憾。治疗镰状细胞病等慢性病需要医生具备专业知识且富有同情心。虽然无法治愈，但可以采取很多措施来帮助患者应对疾病。预防肺炎球菌感染、合理使用输血疗法以及产前诊断等方面的最新进展便是例证。
