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Human and Medical Genetics • Genet. Mol. Biol. 40 (3) • Jul-Sep 2017 • https://doi.org/10.1590/1678-4685-GMB-2016-0161   copy

Combined genotypes of the MBL2 gene related to low mannose-binding lectin levels are associated with vaso-occlusive events in children with sickle cell anemia

Authorship SCIMAGO INSTITUTIONS RANKINGS

Abstract

Sickle cell anemia (SCA) presents heterogenous clinical manifestations that cannot be explained solely by alterations to hemoglobin (Hb); other components such as endothelial adhesion, thrombosis and inflammation may be involved. The mannose-binding lectin (MBL) has an important role in innate immunity and inflammatory diseases. In this report, we describe an association between MBL2 polymorphism related to low production of serum MBL and the frequency of vasoocclusive events (FVOE) in children ≤ 5 years old with SCA (p = 0.0229; OR 5.55; CI 1.11-27.66). Further studies are needed to explore the role of low MBL2 in the pathophysiology of vasoocclusive events in SCA.

Keywords:
MBL2; polymorphism; sickle cell anemia; vaso-occlusive events

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