Federal University Teaching Hospital, Owerri, Nigeria.
Igbinedion University Okada, Okada, Nigeria.
Medicine (Baltimore). 2023 Sep 22;102(38):e35237. doi: 10.1097/MD.0000000000035237.
Sickle cell disease (SCD) is a hereditary blood disorder characterized by the production of abnormal hemoglobin molecules that cause red blood cells to take on a crescent or sickle shape. This condition affects millions of people worldwide, particularly those of African, Mediterranean, Middle Eastern, and South Asian descent. This paper aims to provide an overview of SCD by exploring its causes, symptoms, and available treatment options. The primary cause of SCD is a mutation in the gene responsible for producing hemoglobin, the protein that carries oxygen in red blood cells. This mutation has abnormal hemoglobin called hemoglobin S, which causes red blood cells to become stiff and sticky, leading to various health complications. Patients with SCD may experience recurrent pain, fatigue, anemia, and increased infection susceptibility. Treatment options for SCD focus on managing symptoms and preventing complications. This includes pain management with analgesics, hydration, and blood transfusions to improve oxygen delivery. Hydroxyurea, a medication that increases the production of fetal hemoglobin, is commonly used to reduce the frequency and severity of pain crises. Additionally, bone marrow or stem cell transplants can cure select individuals with severe SCD. Finally, understanding the causes, symptoms, and treatment options for SCD is crucial for healthcare professionals, patients, and their families. It enables early diagnosis, effective symptom management, and improved quality of life for individuals with this chronic condition.
镰状细胞病(SCD)是一种遗传性血液疾病,其特征是产生异常的血红蛋白分子,导致红细胞呈新月形或镰刀形。这种情况影响着全世界数百万人,特别是非洲、地中海、中东和南亚血统的人。本文旨在通过探讨 SCD 的病因、症状和可用的治疗选择,对 SCD 进行概述。SCD 的主要原因是负责产生血红蛋白的基因发生突变,血红蛋白是红细胞中携带氧气的蛋白质。这种突变会产生一种叫做血红蛋白 S 的异常血红蛋白,导致红细胞变得僵硬和粘稠,从而导致各种健康并发症。SCD 患者可能会经历反复的疼痛、疲劳、贫血和增加感染易感性。SCD 的治疗选择侧重于管理症状和预防并发症。这包括使用镇痛药、水合作用和输血来改善氧气输送以进行疼痛管理。羟基脲是一种增加胎儿血红蛋白产量的药物,常用于减少疼痛危机的频率和严重程度。此外,骨髓或干细胞移植可以治愈某些严重 SCD 的个体。最后,了解 SCD 的病因、症状和治疗选择对于医疗保健专业人员、患者及其家属至关重要。这可以实现早期诊断、有效症状管理和改善患有这种慢性疾病的个体的生活质量。