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Sickle-cell disease in a British urban community
Insights
This study identified 70 sickle-cell disease cases in London, finding most patients alive and predominantly under 25. Painful crises and chest syndrome were common admissions, highlighting the need for early diagnosis in at-risk populations.
Area of Science:
- Hematology
- Public Health
- Genetics
Background:
- Sickle-cell disease (SCD) is a group of inherited red blood cell disorders.
- Understanding the epidemiology and clinical course of SCD in diverse populations is crucial for effective healthcare management.
Observation:
- A retrospective review identified 70 SCD cases in London, predominantly of West Indian origin, with over half born in Britain.
- The cohort included various SCD genotypes: Hb SS (n=22), sickle-cell/beta-thalassaemia (n=12), Hb SC (n=34), and Hb S/hereditary persistence of fetal haemoglobin (n=2).
- Most patients were under 25 years old, with a high survival rate.
Findings:
- Painful crises (74%) and chest syndrome (21%) were the most frequent reasons for hospitalization.
- Children under 5 with Hb SS experienced higher admission rates.
- Four cases of pneumococcal infection occurred in children under 8 with Hb SS, all recovering. Three deaths were recorded, including two children with Hb SS and one adult with Hb SC.
Implications:
- The study highlights the significant burden of SCD in a UK urban setting and the need for improved community-based screening and diagnosis.
- Early identification of asymptomatic individuals is vital due to increased risks associated with pregnancy, surgery, and infections.
- Findings underscore the importance of tailored clinical management and preventative strategies for different SCD genotypes.
Abstract:
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.