Studies of novel variants associated with Hb F in Sardinians and Tanzanians in sickle cell disease patients from Cameroon

Abstract

High level of Hb F has been shown to improve survival in sickle cell disease. Among 453 Cameroonians with sickle cell disease, we have investigated 18 selected single-nucleotide polymorphisms (SNPs) in novel and suggestive loci associated with Hb F level identified through a genomewide association study in sickle cell disease patients in Tanzania, and whole-genome sequencing of a population from Sardinia. Seven of 10 variants reported in Sardinians were either monomorphic or very rare in the Cameroonians. No associations were observed with any SNPs and Hb F levels in Cameroonians affected by sickle cell disease. The present study illustrates the complexity of replicating Hb F-promoting variants association results across populations.

Keywords:

• Cameroon
• Hb F
• Sardinia
• sickle cell disease
• Tanzania

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Funding

The molecular experiments of the study were funded by the National Health Laboratory Services (NHLS), Johannesburg, South Africa, and the National Institutes of Health, Bethesda, MD, USA, 10.13039/100000051 [grant number 1U01HG007459–01]. The student’s bursary was provided by the Oppenheimer Memorial Trust, Johannesburg, South Africa, National Research Foundation, Cape Town, South Africa, and FirstRand Laurie Dippenaar Scholarship, Cape Town, South Africa. These organizations had no role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript.