SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from CameroonReportar como inadecuado

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BMC Research Notes

, 10:183

First Online: 12 May 2017Received: 21 June 2016Accepted: 28 April 2017DOI: 10.1186-s13104-017-2502-3

Cite this article as: Pule, G.D., Bitoungui, V.J.N., Chemegni, B.C. et al. BMC Res Notes 2017 10: 183. doi:10.1186-s13104-017-2502-3


BackgroundReactivation of adult hemoglobin HbF is currently a dominant therapeutic approach to sickle cell disease SCD. In this study, we have investigated among SCD patients from Cameroon, the association of HbF level and variants in the HU-inducible small guanosine triphosphate-binding protein, secretion-associated and RAS-related SAR1a protein, previously shown to be associated with HbF after HU treatment in African American SCD patients.

ResultsOnly patients >5 years old were included; hemoglobin electrophoresis and a full blood count were conducted upon arrival at the hospital. RFLP-PCR was used to describe the HBB gene haplotypes and Gap PCR to investigate the 3.7 kb α-globin gene deletion. The iPLEX Gold Sequenom Mass Genotyping Array and cycle sequencing were used for the genotyping of four selected SNPs in SAR1a rs2310991; rs4282891; rs76901216 and rs76901220. Genetic analysis was performed using an additive genetic model, under a generalized linear regression framework. 484 patients were studied. No associations were observed between any of the promoter variants and baseline HbF, clinical events or other hematological indices.

ConclusionThe results of this study could be explained by possible population-specificity of some tagging genomic variants associated with HbF production and illustrated the complexity of replicating HbF-promoting variants association results across African populations.

KeywordsSAR1a promoter Fetal hemoglobin Sickle cell disease Cameroon AbbreviationsHbFhemoglobin F

SCDsickle cell disease


GTPguanosine triphosphate

SARsecretion-associated and RAS-related

RFLP-PCRrestriction fragment-length polymorphism polymerase chain reaction

HBBhemoglobin beta

SNPsingle nucleotide polymorphism

BCL11AB-cell lymphoma-leukemia 11A

HBS1Lhemoglobin S-1 like translational protein

MYBmyeloblastosis protein family

Giα-JNK-Junmitogen-activated protein kinase pathway

ADTalkaline denaturation test

HPLChigh performance liquid chromatography

HWEHardy–Weinberg equilibrium

MAFminor allele frequency

NIHNational Institutes of Health

Autor: Gift Dineo Pule - Valentina Josiane Ngo Bitoungui - Bernard Chetcha Chemegni - Andre Pascal Kengne - Ambroise Wonkam


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