作者: Brit S. Shackley , Thomas A. Drake , Anthony W. Butch
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摘要: ### Patient: A 36-year-old male of Burmese descent. ### Chief Complaint: Anemia and jaundice. ### History Present Illness: At the time presentation, patient was a recent immigrant from Burma who wished to establish care with an American physician. He had been chronically jaundiced anemic since childhood, multiple episodes severe anemia requiring transfusion. reported receiving more than 30 units blood prior age 17. ### Past Medical History: The contracted hepatitis C secondary transfusions he received in Burma. Folic acid his only medication. has no history tobacco or alcohol abuse. ### Family is married 1 child works as accountant. His mother sister both have thalassemia, although they are not severely affected is. father 3 brothers known hematologic disorders. ### Physical Examination: Upon well-nourished, well-developed appearing jaundiced. Non-tender splenomegaly noted extending level umbilicus. There were other abnormal findings on physical examination. The following vital signs recorded: pressure, 130/75 mm Hg; pulse, 72; respiration rate, 16. ### Principal Laboratory Findings: Table Images 1–2. ### Additional Diagnostic Tests: Hemoglobin (Hb) analysis performed by high performance liquid chromatography (HPLC). results shown Figure 1. 1. What most significant clinical laboratory findings? 2. How do you explain these findings? 3. differential diagnosis for findings? 4. tests routinely used distinguish between possible causes this patient’s condition? 5. would confirm diagnosis? 6. likely diagnosis? 7. genetic basis disease? 8. Why presentation rest family? 9. appropriate treatment disease? 10. Is counseling recommended disease? 1. …