Eberle Silvia Eandi, Noguera Nélida I, Sciuccati Gabriela, Bonduel Mariana, Díaz Lilian, Staciuk Raquel, Targovnik Héctor M, Feliu-Torres Aurora
Servicio de Hematología-Oncología, Hospital de Pediatría "Prof. Dr. Juan. P. Garrahan", Buenos Aires, Argentina.
Hemoglobin. 2007;31(3):379-82. doi: 10.1080/03630260701459408.
Hb Alesha is caused by a GTG-->ATG mutation at codon 67 of the beta-globin gene, resulting in abnormal beta-globin chains in which the normal beta67(E11) valine is changed to methionine. This hemoglobin (Hb) is also known as Hb Bristol, the first unstable Hb described, since in a fraction of the variant the methionine is modified into an aspartic acid by a posttranslational modification. This replacement disrupts the apolar bonds between the valine and the heme group, producing an unstable Hb and severe hemolysis. We have identified this rare hemoglobinopathy in an Argentinean girl with severe hemolytic anemia, splenomegaly and frequent requirement for red blood cell transfusions.
Hb Alesha是由β-珠蛋白基因第67密码子处的GTG→ATG突变引起的，导致异常的β-珠蛋白链，其中正常的β67（E11）缬氨酸被甲硫氨酸取代。这种血红蛋白（Hb）也被称为Hb Bristol，是描述的第一种不稳定Hb，因为在一部分变体中，甲硫氨酸通过翻译后修饰被转化为天冬氨酸。这种取代破坏了缬氨酸和血红素基团之间的非极性键，产生了不稳定的Hb和严重溶血。我们在一名患有严重溶血性贫血、脾肿大且频繁需要红细胞输血的阿根廷女孩中发现了这种罕见的血红蛋白病。
