Rotoli B, Camera A, Fontana R, Frigeri F, Pandolfi G, Vecchione R, Poggi V, Longo G, Carestia C, De Angioletti M
Divisione di Ematologia, 2a Facoltà Medica, Università di Napoli, Italy.
Haematologica. 1992 Mar-Apr;77(2):110-8.
Structural hemoglobinopathies usually are inherited as autosomic dominant traits; de novo mutations are uncommon. Analytical and preparative procedures for the characterization of an abnormal hemoglobin are complex and time-consuming. Mass spectrometer analysis allows a rapid identification of the amino acid substitution.
A cyanotic 7-year-old girl was found to have 16% methemoglobin. Laboratory data showed the presence of an abnormal hemoglobin, which was isolated by collecting the abnormal peak from DEAE and globin chains from CM52. The amino acid substitution was rapidly identified by FAB mass spectroscopic analysis, leading to the recognition of HbM Hyde Park. These data were confirmed by molecular analysis (Southern blot and DNA sequencing). Neither the parents nor a sister showed any abnormality; non-paternity was excluded by blood group serology and HLA typing.
This is a case of HbM Hyde-Park arising as a de novo mutation. FAB mass spectroscopic analysis is a rapid and useful analytical method for identifying aminoacid substitution.
结构性血红蛋白病通常作为常染色体显性性状遗传；新发突变并不常见。用于鉴定异常血红蛋白的分析和制备程序复杂且耗时。质谱分析能够快速鉴定氨基酸替代情况。
一名7岁发绀女童被发现有16%的高铁血红蛋白。实验室数据显示存在一种异常血红蛋白，通过从DEAE收集异常峰以及从CM52收集珠蛋白链将其分离出来。通过快原子轰击质谱分析快速鉴定出氨基酸替代情况，从而识别出HbM海德公园型。这些数据通过分子分析（Southern印迹和DNA测序）得到证实。父母及一个姐妹均未显示任何异常；通过血型血清学和HLA分型排除了非父系关系。
这是一例由新发突变引起的HbM海德公园型病例。快原子轰击质谱分析是鉴定氨基酸替代的一种快速且有用的分析方法。
