Molchanova T P, Pobedimskaya D D, Smetanina N S, Moschan A A, Kazanetz E G, Huisman T H
Laboratory of Protein Chemistry, Medical College of Georgia, Augusta 30912-2100.
Hemoglobin. 1993 Jun;17(3):217-25. doi: 10.3109/03630269308998896.
We have identified a valine-->methionine mutation at position 67 of the beta chain in the hemoglobin of a young Russian patient with severe hemolytic disease, anemia, splenomegaly, Heinz body formation, and continued requirement for blood transfusions despite an early splenectomy. Sequencing of amplified DNA readily identified a GTG-->ATG mutation at codon 67. The introduction of the larger methionine residue into the heme pocket, and the loss of the bonds between valine at beta 67 and the heme group, adequately account for the severe instability of Hb Alesha and the serious clinical condition of its carrier.
我们在一名患有严重溶血性疾病、贫血、脾肿大、出现海因茨小体且尽管早期进行了脾切除术仍持续需要输血的年轻俄罗斯患者的血红蛋白β链第67位鉴定出缬氨酸→甲硫氨酸突变。对扩增的DNA进行测序很容易鉴定出密码子67处的GTG→ATG突变。在血红素袋中引入较大的甲硫氨酸残基，以及β67位缬氨酸与血红素基团之间的键的丧失，充分解释了Hb Alesha的严重不稳定性及其携带者的严重临床状况。
