Ugalde Diego, Conte Guillermo, Ugalde Héctor, Figueroa Gastón, Cuneo Marianela, Muñoz Macarena, Mayor Javiera
Servicio de Hematología, Departamento de Medicina Interna, Hospital Clínico Universidad de Chile, Chile.
Rev Med Chil. 2011 Sep;139(9):1192-5. Epub 2011 Nov 17.
Drepanocytic anemia is an uncommon hereditary disease in Chile. The heterozygous state of drepanocytic anemia or "sickle trait" has a frequency of 8% among Afro-Americans. A small number of patients carrying hemoglobin S are homozygous, with clinical manifestations of hemolytic anemia and thrombotic disease. Sickle trait is usually asymptomatic. We report a 59-year-old male who presented an acute abdominal pain and dyspnea while staying at high altitude. Six days later, an angio CAT scan showed the presence of a subcapsular splenic hematoma that was managed conservatively. Sickle cell induction with sodium metabisulphite was positive. Hemoglobin electrophoresis confirmed the sickle trait.
镰状细胞贫血在智利是一种罕见的遗传性疾病。镰状细胞贫血的杂合状态或“镰状细胞性状”在非裔美国人中的发生率为8%。少数携带血红蛋白S的患者是纯合子,有溶血性贫血和血栓性疾病的临床表现。镰状细胞性状通常无症状。我们报告一名59岁男性,在高海拔地区停留时出现急性腹痛和呼吸困难。六天后,血管CT扫描显示存在包膜下脾血肿,对其进行了保守治疗。用焦亚硫酸钠诱导镰状细胞呈阳性。血红蛋白电泳证实为镰状细胞性状。