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

BMC Research Notes

R Clive Landis²  Ian R Hambleton²  Christopher Nicholls¹  Ian Sealy¹  Stephen Moe¹  Kim R Quimby² 

[1] Queen Elizabeth Hospital, Matindale’s Road, St. Michael, Bridgetown, WI, Barbados;Chronic Disease Research Centre, Tropical Medicine Research Institute, University of the West Indies, Jemmott's Lane, St. Michael, Brigetown, WI, Barbados

关键词: Jamaica;    Barbados;    Central monitoring;    Comprehensive care;    Universal screening;    Sickle cell disease;   

Others  :  1134462
DOI  :  10.1186/1756-0500-7-102

 received in 2013-07-23, accepted in 2014-02-18,  发布年份 2014

【 摘 要 】

Background

Comprehensive 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.

Methods

HbSS 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.

Results

Forty-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).

Conclusion

Although 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.

【 授权许可】

   
2014 Quimby et al.; licensee BioMed Central Ltd.

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