Survival of children with sickle cell disease in the comprehensive newborn screening programme in Minas Gerais, Brazil

Abstract

Background Children in developing countries with sickle cell disease SCD have high rates of mortality, especially in some parts of Africa. Aim To compare the 5-year estimated mortality rate in children born between 1999 and 2001 with that of children born between 2009 and 2011. Methods During the period 1998-2012, sickle cell disease was diagnosed in 2591 of 3,617,919 newborns screened in Minas Gerais, Brazil (1 : 1,400). The estimated probability of death [1 - Survival] was calculated by the Kaplan-Meier method. The logrank test was used to compare groups of survival data. Results Of the 2576 children (15 were excluded), 193 died (7.4%): 153 (79.3%) had SS/Sβ-thalassaemia, 34 had SC (17.6%), and six (3.1%) had Sβ thalassaemia. The 5-year estimated mortality was lower for children born between 2009 and 2011 (n=509) than for those born between 1999 and 2001 (n=624), although not significantly [mean (SD) 5.8% (1.1) vs 6.2% (1.0)], respectively). Conclusion Despite an effective ongoing comprehensive screening programme, mortality from SCD in Minas Gerais is still high. To decrease mortality rates, socio-economic development and SCD education programmes for health professionals and families are required.

Human leukocyte antigen distribution and genomic ancestry in Brazilian patients with sickle cell disease

“…SCD is a public health problem in Brazil, due to the large number of affected individuals . Despite the association between SCD and African ancestry, extensive admixture has been shown in patients with SCD .…”

“…SCD is a public health problem in Brazil, due to the large number of affected individuals. 15,16 Despite the association between SCD and African ancestry, extensive admixture has been shown in patients with SCD. 17 Consequently, more studies about the genetic profiles of these patients are necessary to understand the influence of the genetic diversity of this population on the likelihood of identifying an HLA-matched donor and on the outcomes of HSCT.…”

Is integrating sickle cell disease and HIV screening logical?

“…In Brazil, such screening has not been associated with a substantial decline in early mortality. 8 Thus, while early diagnosis is logical, what is more important is to provide good care afterwards, otherwise a neonatal screening programme could easily become another way of increasing the existing pool of people known to be aff ected by sickle cell disease.…”