异常血红蛋白Bushwick临床和分子特征一例报道分析  

Hemoglobin (Hb) bushwick:one case report

作　　者：李坚[1] 谢杏梅[1] 李东至[1] 

机构地区：[1]广州市妇婴医院优生围产研究所,510180

出　　处：《中国优生与遗传杂志》2010年第2期29-29,33,共2页Chinese Journal of Birth Health & Heredity

基　　金：广州市医药卫生科技重点项目(2008-ZDi-06)

摘　　要：目的报道1例异常血红蛋白Bushwick杂合子病例的临床和分子特征。方法对1例异常血红蛋白Bushwick病例的临床表现进行分析,并用分子生物学方法检测其分子基础。结果异常血红蛋白Bushwick病例表现为轻度黄疸和血尿的间歇性发作,其分子基础为β-珠蛋白第74位甘氨酸突变为缬氨酸,生成不稳定血红蛋白。结论对临床慢性溶血病例应注意不稳定血红蛋白的可能。Objective：To study the clinical and molecular features of hemoglobin Bushwick. Methods：A case of hemoglobin Bushwick was studied with review of the literature.Results：The main features manifested in this case included slight jaundice and darkening urine with episodes of acute exacerbation. Sequence analysis of the entire β-globin gene revealed a G to T base substitution within codon 74 （GGC to GTC）,which predicted that the glycine residue in this position was replaced by valine. Conclusion：Unstable hemoglobin should be considered in patients with chronic hemolytic anemia.

关 键 词：血红蛋白Bushwick 慢性溶血 不稳定血红蛋白 

分 类 号：R556.7[医药卫生—血液循环系统疾病]