【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。更多还原

【Abstract】 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.更多还原