A 32-year-old African American woman came to the obstetrics and gynecology clinical of her local hospital because she was feeling a little weak. A CBC showed hemoglobin of 9.9 g/dL (reference range 11.7 to 15.7 g/dL), with an MCV of 87 fL (reference range 80 to 100 fL). The physician ordered a hemoglobin electrophoresis as a follow-up. The cellulose acetate pattern showed a peak of 58% at the hemoglobin A position, a peak of 35% at the hemoglobin S position, and a peak of 5% at the A2 position. Further studies indicated a positive dithionite solubility test result and a hemoglobin F value of 1%. QUESTIONS: 1. What is the best possible diagnosis for this patient? 2. Does this condition require further follow-up and treatment? 3. What implications does this disease have for her unborn child? 4. Are the values for hemoglobins A2 and F normal for this condition? UTML Editorm A few days after a laparotomy for 'intestinal obstruction', a young nurse from South Africa became emotionally disturbed and appeared to be hysterical. For longer than 1 week before the operation, she had taken barbiturate capsules to help her sleep. When first seen, she complained of severe abdominal and muscle pain and general weakness. Her tendon reflexes were absent, and she was vomiting and constipated. Her urine was dark in color on standing and gave a brilliant pink fluorescence when viewed in ultraviolet light. Within 24 hours, she was completely paralyzed, and within 2 days she died. QUESTIONS: 1. What possible condition did this young woman have, and why did it manifest at this time? 2. Would any members of her family have a similar disease? 3. What enzyme defect did she have? 4. What other confirmatory tests, if any, could be done?