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

BMC Res Notes. 2014 Feb 22:7:102. doi: 10.1186/1756-0500-7-102.

Abstract

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.

MeSH terms

  • Adolescent
  • Adult
  • Albuminuria / diagnosis
  • Albuminuria / epidemiology
  • Anemia, Sickle Cell / diagnosis*
  • Anemia, Sickle Cell / epidemiology
  • Anemia, Sickle Cell / genetics
  • Barbados / epidemiology
  • Child
  • Cohort Studies
  • Comorbidity
  • Female
  • Homozygote
  • Humans
  • Infant, Newborn
  • Jamaica / epidemiology
  • Leg Ulcer / diagnosis
  • Leg Ulcer / epidemiology
  • Male
  • Mass Screening / methods*
  • Middle Aged
  • Neonatal Screening / methods
  • Pilot Projects
  • Population Surveillance / methods*
  • Registries / statistics & numerical data*
  • Young Adult