UO Ematologia 2, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milano, Italy.
Eur J Haematol. 2010 Aug;85(2):170-3. doi: 10.1111/j.1600-0609.2010.01451.x. Epub 2010 Mar 31.
We report the clinical, haematological and molecular characteristics of two triose phosphate isomerase deficient patients affected by haemolytic anaemia and neuromuscular impairment. The sequence of complete TPI gene showed the presence of two previously undescribed mutations: c.722 T>C (Phe240Ser) and c.28 insG; each of the two unrelated patients showed the new mutation in compound heterozygosity with the most common variant Glu104Asp. The association of Glu104Asp with c.28 insG resulted in a very severe clinical pattern.
我们报告了两名患有溶血性贫血和神经肌肉损伤的磷酸丙糖异构酶缺乏症患者的临床、血液学和分子特征。完整 TPI 基因的序列显示存在两种以前未描述的突变：c.722 T>C（Phe240Ser）和 c.28 insG；这两个无关的患者均以复合杂合子的形式携带新的突变，与最常见的变异 Glu104Asp 共同存在。Glu104Asp 与 c.28 insG 的联合导致了非常严重的临床表型。
