Hutt P J, Pisciotta A V, Fairbanks V F, Thibodeau S N, Green M M
Department of Pediatrics, Mayo Clinic, Rochester, MN 55905, USA.
Hemoglobin. 1998 Jan;22(1):1-10. doi: 10.3109/03630269809071512.
Among the causes of congenital methemoglobinemia, Hb M-Milwaukee-2 was one of the earliest described, in a patient who also had Hb E trait. The structure of Hb M-Milwaukee-2 has been elusive. DNA sequence analysis, as here reported, proves that this hemoglobin variant is due to the mutation CAC-->TAC at codon 92 of the beta-globin gene, corresponding to the substitution of tyrosine for histidine. This mutation is identical with that presumed to be the cause of Hb M-Hyde Park and Hb M-Akita. In addition, the DNA mutation of Hb E, GAG-->AAG at codon 26, was confirmed in this case.
在先天性高铁血红蛋白血症的病因中，Hb M-密尔沃基-2是最早被描述的病因之一，该患者同时具有Hb E特征。Hb M-密尔沃基-2的结构一直难以确定。如本文所报道的，DNA序列分析证明这种血红蛋白变体是由于β-珠蛋白基因第92密码子处的突变CAC→TAC，相当于组氨酸被酪氨酸取代。此突变与推测导致Hb M-海德公园和Hb M-秋田的突变相同。此外，在该病例中证实了Hb E在第26密码子处的DNA突变GAG→AAG。
