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Genetic variants associated with fetal hemoglobin levels show the diverse ethnic origin in Colombian patients with sickle cell anemia

Overview of attention for article published in Biomédica, May 2015
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Title
Genetic variants associated with fetal hemoglobin levels show the diverse ethnic origin in Colombian patients with sickle cell anemia
Published in
Biomédica, May 2015
DOI 10.7705/biomedica.v35i3.2573
Pubmed ID
Authors

Cristian Fong, Stephan Menzel, María Alejandra Lizarralde, Guillermo Barreto

Abstract

Fetal hemoglobin is an important factor in modulating the severity of sickle cell anemia. Its level in peripheral blood underlies strong genetic determination. Associated loci with increased levels of fetal hemoglobin display population-specific allele frequencies. We investigated the presence and effect of known common genetic variants promoting fetal hemoglobin persistence (rs11886868, rs9399137, rs4895441, and rs7482144) in 60 Colombian patients with sickle cell anemia. Four single nucleotide polymorphisms (SNP) were genotyped by restriction fragment length polymorphisms (RFLP) and the use of the TaqMan procedure. Fetal hemoglobin (HbF) from these patients was quantified using the oxyhemoglobin alkaline denaturation technique. Genotype frequencies were compared with frequencies reported in global reference populations. We detected genetic variants in the four SNPs, reported to be associated with higher HbF levels for all four SNPs in the Colombian patients. Genetic association between SNPs and HbF levels did not reach statistical significance. The frequency of these variants reflected the specific ethnic make-up of our patient population: A high prevalence of rs7482144-'A' reflects the West-African origin of the sickle cell mutation, while high frequencies of rs4895441-'G' and rs11886868-'C' point to a significant influence of an Amerindian ethnic background in the Colombian sickle cell disease population. These results showed that in the sickle cell disease population in Colombia there is not a unique genetic background, but two (African and Amerindian). This unique genetic situation will provide opportunities for a further study of these loci, such as fine-mapping and molecular-biological investigation. Colombian patients are expected to yield a distinctive insight into the effect of modifier loci in sickle cell disease.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 45 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 45 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 8 18%
Student > Master 6 13%
Researcher 6 13%
Student > Bachelor 4 9%
Student > Postgraduate 4 9%
Other 5 11%
Unknown 12 27%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 10 22%
Medicine and Dentistry 5 11%
Agricultural and Biological Sciences 4 9%
Pharmacology, Toxicology and Pharmaceutical Science 2 4%
Immunology and Microbiology 2 4%
Other 7 16%
Unknown 15 33%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 06 January 2017.
All research outputs
#22,764,772
of 25,377,790 outputs
Outputs from Biomédica
#752
of 848 outputs
Outputs of similar age
#239,409
of 279,052 outputs
Outputs of similar age from Biomédica
#16
of 19 outputs
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