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scientific articles

Sickle Cell Disease

key information

source: The New England Journal of Medicine (NEJM)

year: 2017

authors: Piel FB, Steinberg MH, Rees DC

summary/abstract:

The review of sickle cell disease by Piel et al. (April 20 issue) is timely and highlights the need to address the lack of research about this disease in sub-Saharan Africa. The authors rightly state that in the past two decades, childhood mortality has been reduced in sub-Saharan Africa, but the survival data cited by Piel et al. were derived from a single-site study performed almost four decades ago.

Two-year follow-up data from a pilot cohort study in Nigeria show that survival among children with sickle cell disease remains poor in sub-Saharan Africa. There are no conclusive data to support the use of chemoprevention in addition to insecticide-treated bed nets for prophylaxis against malaria in patients with sickle cell disease.
With regard to Figure 3 in the review by Piel et al., multiple data suggest that the Cameroon haplotype of the β-globin gene (HBB) is associated with a more severe phenotype than the Benin haplotype; thus, in the figure, the Cameroon haplotype should have been to the right of the Benin haplotype.

In addition to fetal hemoglobin (HbF)-promoting loci and the coinheritance of α-thalassemia that are established genetic modifiers of sickle cell disease, data also provide support for genetic risk markers of renal dysfunction in APOL1 and HMOX15 and of cholestasis in UGT1A1.

organization: Imperial College London, London, United Kingdom; Boston University School of Medicine, Boston, MA; King's College London, London, United Kingdom

DOI: 10.1056/NEJMc1706325

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