Sickle cell anemia and related hemoglobinopathies.
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.
D000743:Anemia, Hemolytic / Q000209:etiology; D000755:Anemia, Sickle Cell / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy*; D000986:Antisickling Agents / Q000627:therapeutic use; D001424:Bacterial Infections / Q000517:prevention & control; D001803:Blood Transfusion; D001847:Bone Diseases / Q000209:etiology; D002493:Central Nervous System Diseases / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D003376:Counseling; D004909:Erythrocyte Indices; D005128:Eye Diseases / Q000209:etiology; D005190:Family; D005260:Female; D005312:Fetal Blood / Q000032:analysis; D006331:Heart Diseases / Q000209:etiology; D006451:Hemoglobin, Sickle / Q000032:analysis / Q000096:biosynthesis; D006453:Hemoglobinopathies / Q000628:therapy*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008107:Liver Diseases / Q000209:etiology; D008171:Lung Diseases / Q000209:etiology; D008297:Male; D009294:Narcotics / Q000627:therapeutic use; D010166:Palliative Care; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic; D011296:Prenatal Diagnosis; D012805:Sickle Cell Trait / Q000175:diagnosis; D012883:Skin Ulcer / Q000209:etiology; D014570:Urologic Diseases / Q000209:etiology
D000986:Antisickling Agents; D006451:Hemoglobin, Sickle; D009294:Narcotics