SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon

BMC Research Notes
Gift D PuleAmbroise Wonkam

Abstract

Reactivation 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. Only 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. The results of this study could be explained by possible population-specificity of some tagging genom...Continue Reading

References

Apr 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·D LabieR L Nagel
Oct 10, 1998·American Journal of Hematology·M H SteinbergR F Rieder
Mar 6, 2008·British Journal of Haematology·Chutima KumkhaekGriffin P Rodgers
Aug 1, 2008·Proceedings of the National Academy of Sciences of the United States of America·Guillaume LettreStuart H Orkin
Oct 8, 2009·Human Molecular Genetics·Swee Lay TheinChad Garner
Jan 19, 2010·Proceedings of the National Academy of Sciences of the United States of America·Katarzyna BrycCarlos D Bustamante
Dec 4, 2014·Nature·Deepti GurdasaniManjinder S Sandhu

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Methods Mentioned

BETA
electrophoresis
PCR
Genotyping

Clinical Trials Mentioned

NCT00011648

Software Mentioned

SPSS
R

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