Anionwu E, Walford D, Brozović M, Kirkwood B
Br Med J (Clin Res Ed). 1981 Jan 24;282(6260):283-6. doi: 10.1136/bmj.282.6260.283.
Seventy cases of sickle-cell disease were identified in the London Borough of Brent from records dating back to 1962. All but three were still alive and, with one exception, were recalled for confirmation of the diagnosis and to provide personal and family histories. The group consisted of 22 individuals with homozygous sickle-cell anaemia (Hb SS), 12 with sickle-cell/beta-thalassaemia double heterozygosity, 34 with sickle-cell/haemoglobin C disease (Hb SC), and two with the combination of haemoglobin S and hereditary persistence of fetal haemoglobin. They were predominantly of West Indian origin, more than half had been born in Britain, and most were aged under 25. The records for 304 patient admissions between 1962 and 1979 were analysed. There were 199 sickle-cell-disease-related admissions, 61 unrelated to sickle-cell disease, and 44 for pregnancy or its complications. Admissions per patient-year averaged less than one, except for children with Hb SS under the age of 5 years, who were admitted more frequently. The commonest reasons for admission were painful crises (74% of all admissions) and the "chest syndrome" (21%). There were four pneumococcal infections, all in children with Hb SS under the age of 8 years; all recovered. Three patients, aged 10, 15, and 50 years, died. The two children with Hb SS died in their sleep without gross evidence of sickling at necropsy. Multiple brain infarcts were found at necropsy in the 50-year-old woman with Hb SC who, having survived nine uneventful pregnancies, succumbed to an infection after cryosurgery to the cervix. Obstetric records were available for 18 term pregnancies in 11 women. Three antenatal sickling crises and three postpartum thromboembolic complications were encountered. There were no maternal or perinatal deaths. Fifteen asymptomatic individuals with sickle-cell disease were diagnosed as a result of routine screening procedures. There are likely to be many such individuals currently undiagnosed in the community. They urgently need identification because of their increased risks from pregnancy, surgery, and infection.
从可追溯至1962年的记录中，在伦敦布伦特行政区确认了70例镰状细胞病患者。除3例死亡外，其余患者均存活，且除1例例外，均被召回以确认诊断并提供个人及家族病史。该群体包括22例纯合子镰状细胞贫血（Hb SS）患者、12例镰状细胞/β地中海贫血双重杂合子患者、34例镰状细胞/血红蛋白C病（Hb SC）患者以及2例血红蛋白S与胎儿血红蛋白遗传性持续存在组合的患者。他们主要来自西印度群岛，半数以上出生在英国，且大多数年龄在25岁以下。对1962年至1979年间304例患者的入院记录进行了分析。其中199例与镰状细胞病相关，61例与镰状细胞病无关，44例因妊娠或其并发症入院。每位患者每年的入院次数平均少于1次，但5岁以下的Hb SS儿童入院频率更高。最常见的入院原因是疼痛性危象（占所有入院病例的74%）和“胸部综合征”（21%）。有4例肺炎球菌感染，均发生在8岁以下的Hb SS儿童中；所有患儿均康复。3例患者死亡，年龄分别为10岁、15岁和50岁。2例Hb SS儿童在睡眠中死亡，尸检时未发现明显的镰状化证据。在尸检中，发现50岁的Hb SC女性患有多发性脑梗死，她在经历了9次平安无事的妊娠后，在宫颈冷冻手术后因感染而死亡。有11名女性的18次足月妊娠的产科记录可供查阅。共遇到3例产前镰状化危象和3例产后血栓栓塞并发症。无孕产妇或围产期死亡。通过常规筛查程序诊断出15例无症状镰状细胞病患者。目前社区中可能还有许多此类未被诊断的个体。由于他们在妊娠、手术和感染方面面临更高风险，迫切需要进行识别。
