Cross Timothy J S, Berry Philip A, Akbar Nuzhat, Wendon Julia, Thein S L, Harrison Phillip M
Institute of Liver Studies, King's College Hospital, London SE5 9RS, United Kingdom.
Am J Hematol. 2007 Sep;82(9):852-4. doi: 10.1002/ajh.20971.
A 38-year-old Ghanaian man presented with a 6-month history of worsening pruritus, jaundice, and ascites. He was previously fit and well and rarely drank alcohol. Screening tests for chronic liver disease including viral, autoimmune, and other metabolic causes including iron overload were unremarkable. A liver biopsy performed at the referring hospital demonstrated intralobular cholestasis and cirrhosis. He was listed for liver transplantation but subsequently developed sepsis with multiple organ failure and died. The sickle solubility test was positive. Blood smear showed cells consistent with liver failure and no sickle cells. Hemoglobin electrophoresis revealed HbA2 2.8%, HbF 0.5%, and HbS greater than HbA (49.6% vs. 41.3%) in the absence of blood transfusion. Sequence analysis of the beta-globin genes showed he was a compound heterozygote for the Hbs mutation at codon 6 (CAG --> GTG) and a novel mutation at position 844 of intron 2 (betaIVS2-844 C --> A). A diagnosis of sickle hepatopathy causing decompensated cirrhosis was made. This case is unusual insomuch as this patient was asymptomatic for over 35 years and represents a novel presentation of sickle cell disease. Sickle cell disease should be considered in appropriate patients when unusual presentations of liver disease arise.
一名38岁的加纳男子出现了6个月的瘙痒、黄疸和腹水加重病史。他之前身体健康，很少饮酒。对慢性肝病进行的筛查测试，包括病毒、自身免疫以及其他代谢原因（如铁过载），结果均无异常。在转诊医院进行的肝活检显示小叶内胆汁淤积和肝硬化。他被列入肝移植名单，但随后出现败血症并伴有多器官功能衰竭，最终死亡。镰状细胞溶解度试验呈阳性。血涂片显示细胞符合肝衰竭表现，未见镰状细胞。血红蛋白电泳显示，在未输血的情况下，HbA2为2.8%，HbF为0.5%，HbS大于HbA（49.6%对41.3%）。β-珠蛋白基因序列分析显示，他是密码子6处Hbs突变（CAG --> GTG）和内含子2第844位新突变（βIVS2-844 C --> A）的复合杂合子。诊断为镰状细胞性肝病导致失代偿性肝硬化。该病例不同寻常之处在于，该患者35年多来一直无症状，代表了镰状细胞病的一种新表现形式。当出现不寻常的肝病表现时，应在合适的患者中考虑镰状细胞病。
