Sheikh Muhammad Kamil, Yusoff Narazah Mohd, Kaur Gurjeet, Khan Farhat Aziz
Advanced Medical and Dental Institute (Clinical Centre, Universiti Sains Malaysia, No. 29 Lorong Bertam Indah 4/9, Taman Bertam Indah, 13200 Kepala Batas, Penang, Malaysia.
Malays J Med Sci. 2007 Jul;14(2):54-7.
This case report describes a 35-year-old lady who presented with generalized weakness and lethargy of two weeks duration and jaundice of more than 20 years duration. Her initial workup was suggestive of haemolysis and blood film showed a leucoerythoblastic picture with moderate microspherocytes. She was finally diagnosed as a case of hereditary spherocytosis after ruling out other possible causes of chronic haemolysis and supported by an abnormal osmotic fragility test, although family members refused for screening. Hereditory spherocytosis is uncommon in Malay population and presentation with jaundice of 20 years duration with leucoerythroblastic picture on blood film were interesting features in this case. Patient is being followed closely for need of splenectomy in near future as per severity of haemolysis and currently being managed with folic acid supplement.
本病例报告描述了一位35岁女性,她出现了持续两周的全身无力和嗜睡以及持续20多年的黄疸。她的初步检查提示溶血,血涂片显示有核红细胞增多的图像以及中度小球形红细胞。在排除了其他可能的慢性溶血原因,并得到异常渗透脆性试验的支持后,她最终被诊断为遗传性球形红细胞增多症,尽管其家庭成员拒绝筛查。遗传性球形红细胞增多症在马来人群中并不常见,本病例中出现20年黄疸且血涂片有核红细胞增多的图像是有趣的特征。根据溶血的严重程度,患者正被密切随访,以备近期行脾切除术,目前通过补充叶酸进行治疗。