Arbefeville Elise F, Tebbi Cameron K, Chrostowski Leszek, Adams Vernard I
Department of Pathology and Cell Biology, University of South Florida, Tampa, USA.
Am J Forensic Med Pathol. 2011 Dec;32(4):341-3. doi: 10.1097/PAF.0b013e3181d8e390.
Hemoglobin (Hb) S and Hb E are the most common variant hemoglobins, but because of the geographical separation of the areas where they are prevalent, the combination of the 2 is uncommon. Approximately 46 cases of hemoglobin SE compound heterozygosity have been reported. No deaths from the condition have been reported previously, whereas death after vigorous physical activity in individuals with sickle cell trait (hemoglobin AS) has been described in a few case reports. Here we report previously undiagnosed hemoglobinopathy SE in a 12-year-old American boy who collapsed during football practice and had a cardiac arrest on the field after a brief lucid interval. The autopsy was significant only for postmortem intravascular sickling. A postmortem hemoglobin electrophoresis test revealed 57% S, 34% E, and 1% F hemoglobins. The death is attributed to cardiac ischemia from functional vaso-occlusion by sickled erythrocytes.
血红蛋白(Hb)S和Hb E是最常见的变异血红蛋白,但由于它们流行地区的地理分隔,两者同时出现的情况并不常见。据报道,约有46例血红蛋白SE复合杂合子病例。此前尚无该病症导致死亡的报告,而少数病例报告中曾描述过具有镰状细胞性状(血红蛋白AS)的个体在剧烈体育活动后死亡的情况。在此,我们报告一名12岁美国男孩,此前未被诊断出患有血红蛋白病SE,他在足球训练期间晕倒,经过短暂清醒期后在球场上心脏骤停。尸检仅发现死后血管内镰变。死后血红蛋白电泳测试显示,血红蛋白S占57%,血红蛋白E占34%,血红蛋白F占1%。死亡原因是镰状红细胞功能性血管闭塞导致的心脏缺血。