Clinical findings associated with homozygous sickle cell disease in the Barbadian population – do we need a national SCD registry?

Abstract

BackgroundComprehensive care in homozygous sickle cell disease (HbSS) entails universal neonatal screening and subsequent monitoring of identified patients, a process which has been streamlined in the neighbouring island of Jamaica. In preparation for a similar undertaking in Barbados, we have developed a database of persons with known HbSS, and have piloted processes for documenting clinical manifestations. We now present a brief clinical profile of these findings with comparisons to the Jamaican cohort.MethodsHbSS participants were recruited from clinics and support groups. A history of select clinical symptoms was taken and blood and urine samples and echocardiograms were analysed. A re-analysis of data from a previous birth cohort was completed.ResultsForty-eight persons participated (32 F/16 M); age range 10–62 yrs. 94% had a history of ever having a painful crisis. In the past year, 44% of participants had at least one crisis. There were >69 crises in 21 individuals; 61% were self-managed at home and the majority of the others were treated and discharged from hospital; few were admitted. The prevalence of chronic leg ulceration was 27%. Forty-two persons had urinalysis, 44% were diagnosed with albuminuria (urinary protein/creatinine ratio ≥30 mg/g). Thirty-two participants had echocardiography, 28% had a TRJV ≥ 2.5 m/s. Re-analysis of the incidence study revealed a sickle gene frequency (95% CI) of 2.01% (0.24 to 7.21).ConclusionAlthough we share a common ancestry, it is thought that HbSS is less common and less severe in Barbados compared to Jamaica. The Jamaican studies reported a sickle gene frequency of 3.15 (2.81 to 3.52); the prevalence of chronic leg ulcers and albuminuria was 29.5% and 42.5% respectively. These comparisons suggest that our initial thoughts may be speculative and that HbSS may be an underestimated clinical problem in Barbados. A prospective neonatal screening programme combined with centralized, routine monitoring of HbSS morbidity and outcomes will definitively answer this question and will improve the evidence-based care and management of HbSS in Barbados.

The risk of acute events among patients with sickle cell disease in relation to early or late initiation of care at a specialist center: evidence from a retrospective cohort study

“…This suggests that a high degree of morbidity can be averted with early initiation of care. These rates concur with VOC being the most common event experienced by children with SCD in other settings [19,20].…”

Biochemical and Molecular analysis of the beta-globin gene on Saudi sickle cell anemia

“…The vast majority of follow-up SCD patients were treated at the emergency department, while a few were admitted to the hospital. It was clear that the clinical symptoms of our patients vary greatly, as reported by Quimby et al (2014).…”

Intravenous infusion of haptoglobin for the prevention of adverse clinical outcome in Sickle Cell Disease

“…dactylitis and stroke, can occur in childhood with devastating sequelae [86][87][88][89][90][91]. The acute vaso-occlusive crisis is the most commonly reported feature with 94% in our own population having ever experienced such [92,93]. Albuminuria is also quite common, with a reported prevalence as high as 68% [26].…”