Department of Hematology, All India Institute of Medical Sciences, New Delhi, India.
Indian J Pediatr. 2010 Mar;77(3):316-7. doi: 10.1007/s12098-009-0297-5. Epub 2010 Jan 20.
A 10-yr-old HbE/Beta thalassemia child who developed subacute to chronic occipitotemporal hemorrhagic infarct with smaller chronic infarct with gliotic changes in the left frontal periventricular white matter. Genetic tests showed that patient was positive for HbE and IVS1-5 mutation and was negative for thrombogenic mutations. Hemorrhagic infarct was confirmed by magnetic resonance imaging study. Antigenic levels of Protein C and Protein S were low. Based on these outcomes, it was concluded that Protein C and Protein S deficiency were the causative factor for developing hemorrhagic infarct in the HbE/Beta thalassemia patient.
一位 10 岁的 HbE/Beta 地中海贫血患儿出现亚急性至慢性枕颞叶出血性梗死，伴有左侧额脑室周围白质的较小慢性梗死和胶质改变。基因检测显示患者 HbE 和 IVS1-5 突变阳性，血栓形成突变阴性。磁共振成像研究证实为出血性梗死。蛋白 C 和蛋白 S 的抗原水平较低。根据这些结果，得出结论，蛋白 C 和蛋白 S 缺乏是导致 HbE/Beta 地中海贫血患者发生出血性梗死的原因。
