Shankar Malavika, Gousy Nicole, Chowdhury Tutul
Internal Medicine, Interfaith Medical Center, New York City, USA.
Medicine, American University of Antigua, New York City, USA.
Cureus. 2022 Mar 18;14(3):e23293. doi: 10.7759/cureus.23293. eCollection 2022 Mar.
Sickle cell disease variants can commonly present as life-threatening complications, like sequestration crisis, hypersplenism, or stroke. However, clinicians should also look for milder findings like asymptomatic chronic anemia mimicking iron deficiency as a milder, more insidious clue to an underlying sickle cell variant. Early investigations of these milder symptoms can potentially reduce the risk of more severe complications such as vaso occlusive crisis. In this report, we present a 75-year-old African-American female, who was referred to the hematology clinic for chronic anemia without any history of vaso occlusive crisis and was eventually diagnosed with sickle cell beta plus thalassemia as per hemoglobin electrophoresis. Here, we review the challenges in diagnosing rarer types of sickle cell disease and the importance of educating patients about the diagnosis. This rare type demands clinicians' awareness to identify the disease early and to understand the etiology of the complications, if any, that occur.
镰状细胞病变体通常会表现为危及生命的并发症，如脾隔离危象、脾功能亢进或中风。然而，临床医生也应留意一些较轻微的表现，比如类似缺铁性贫血的无症状慢性贫血，这是潜在镰状细胞变体的一种较轻微、更隐匿的线索。对这些较轻微症状的早期检查有可能降低诸如血管闭塞危象等更严重并发症的风险。在本报告中，我们介绍了一名75岁的非裔美国女性，她因慢性贫血被转诊至血液科门诊，既往无血管闭塞危象病史，最终经血红蛋白电泳诊断为镰状细胞β+地中海贫血。在此，我们回顾了诊断罕见类型镰状细胞病的挑战以及对患者进行诊断教育的重要性。这种罕见类型需要临床医生提高意识，以便早期识别疾病，并了解所发生并发症（如有）的病因。
