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Genetic variation in CD36, HBA, NOS3 and VCAM1 is associated with chronic haemolysis level in sickle cell anaemia: a longitudinal study.

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dc.contributor.authorCoelho, A
dc.contributor.authorDias, A
dc.contributor.authorMorais, A
dc.contributor.authorNunes, B
dc.contributor.authorFerreira, E
dc.contributor.authorPicanço, I
dc.contributor.authorFaustino, P
dc.contributor.authorLavinha, J
dc.date.accessioned2016-11-17T11:41:55Z
dc.date.available2016-11-17T11:41:55Z
dc.date.issued2014
dc.description.abstractChronic haemolysis stands out as one of the hallmarks of sickle cell anaemia, a clinically heterogeneous autosomal recessive monogenic anaemia. However, the genetic architecture of this sub-phenotype is still poorly understood. Here, we report the results of an association study between haemolysis biomarkers (serum LDH, total bilirubin and reticulocyte count) and the inheritance of 41 genetic variants of ten candidate genes in a series of 99 paediatric SS patients (median current age of 9.9 yr) followed up in two general hospitals in Greater Lisboa area (median follow-up per patient of 5.0 yr). Although in a large number of tests a seemingly significant (i.e. P < 0.05) association was observed, the following ones were confirmed upon correction for multiple comparisons: (i) an increased serum LDH level was associated with haplotype 7 within VCAM1 gene; (ii) a lower total bilirubin was associated with the 3.7-kb deletion at HBA gene, rs2070744_T allele at NOS3 gene, and haplotype 9 within VCAM1 promoter; and (iii) a diminished reticulocyte count was associated with the 3.7-kb deletion at HBA, whereas an increased count was associated with rs1984112_G allele at CD36 gene. On the whole, our findings suggest a complex genetic architecture for the sickle cell anaemia haemolysis process involving multiple pathways, namely control of vascular cell adhesion, NO synthesis and erythrocyte volume and haemoglobinisation.pt_PT
dc.identifier.citationEur J Haematol. 2014;92(3):237-43pt_PT
dc.identifier.doi10.1111/ejh.12226pt_PT
dc.identifier.issn1600-0609
dc.identifier.urihttp://hdl.handle.net/10400.10/1752
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWiley-Blackwellpt_PT
dc.subjectSickle cell anemiapt_PT
dc.subjectSickle cell diseasept_PT
dc.subjectHemoglobinspt_PT
dc.subjectDoenças genéticaspt_PT
dc.titleGenetic variation in CD36, HBA, NOS3 and VCAM1 is associated with chronic haemolysis level in sickle cell anaemia: a longitudinal study.pt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceOxfordpt_PT
oaire.citation.endPage243pt_PT
oaire.citation.startPage237pt_PT
oaire.citation.titleEuropean Journal of Haematologypt_PT
oaire.citation.volume92pt_PT
rcaap.rightsrestrictedAccesspt_PT
rcaap.typearticlept_PT

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