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Minireview: Genetic basis of heterogeneity and severity in sickle cell disease

1 Mar 2016

Abstract excerpt

Sickle cell disease, a common single gene disorder, has a complex pathophysiology that at its root is initiated by the polymerization of deoxy sickle hemoglobin. Sickle vasoocclusion and hemolytic anemia drive the development of disease complications. In this review, we focus on the genetic modifiers of disease heterogeneity. The phenotypic heterogeneity of disease is only partially explained by genetic...

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PMID: 26936084
DOI: 10.1177/1535370216636726

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