Trusted Resources: Evidence & Education
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Sickle Cell Disease
source: The New England Journal of Medicine (NEJM)
authors: Piel FB, Steinberg MH, Rees DCsummary/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
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