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1948年H(?)rlein和Weber报道了一个有四代成员患先天性青紫的家庭,并通过正常血红素与患者的珠蛋白结合和患者的血红素与正常的珠蛋白结合的实验,证明患者的珠蛋白呈异常是致病的原因。因为它以高铁血红蛋白(Met-Hb)的方式存在,1955年Singer将这种异常血红蛋白命名为血红蛋白M(Hb-M)。以后世界各地陆续有这类变异的报告。目前公认的HbM变异共有五种,即HbM-Boston(HbM_B),Hb M-Iwate(HbM_I),HbM-Suskatoon(HbMs),Hb M-Milwau-kee-1(HbM_M-1)和Hb M-Hyde Park(HbM_(HP))。遗传方式HbM病以常染色体显性方式遗传。患者均为杂合子(即有HbM和HbA),一般无功能性损害。纯合子不能成活。分子病理学近年来,由于基础科学的迅速发展和新技术的应用,特别是X线衍射技术的应用对
In 1948 Hörlein and Weber reported on a family of four generations of congenital cyanosis who, through experiments with normal heme binding to the patient’s globin and binding of the patient’s heme to normal globin, demonstrated that the patient Abnormalities in globin are the cause of the disease. Because of its presence as methemoglobin (Met-Hb), Singer named this aberrant hemoglobin hemoglobin M (Hb-M) in 1955. Since then, there have been reports of such variations around the world. There are five types of HbM mutations currently recognized, namely HbM-Boston (HbM_B), Hb M-Iwate (HbM_I), HbM-Suskatoon (HbMs), Hb M-Milwauke-1 (HbM_M-1) and Hb M-Hyde Park (HbM_ (HP)). Hereditary HbM disease is autosomal dominant. Patients are heterozygous (ie, HbM and HbA), generally without functional impairment. Homozygotes can not survive. Molecular Pathology In recent years, due to the rapid development of basic science and the application of new technologies, especially the application of X-ray diffraction