Journal
HEMOGLOBIN
Volume 31, Issue 2, Pages 209-224Publisher
TAYLOR & FRANCIS LTD
DOI: 10.1080/03630260701290233
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The phenotypic heterogeneity of sickle cell disease continues to puzzle clinicians and investigators more than ha4(a century after the elucidation of its molecular basis. Although advances have been made in understanding the influences of globin gene-related factors such as a-thalassemia (thal) and high Hb F determinants, these are far frorn providing a satisfactory explanation to the variation and clinical diversity of sickle cell disease in many cases. The sequencing of the human genome and the development Of novel technologies such as high throughput genotyping and analysis of gene expression through cDAA microarrays has made it possible to investigate this diversity with these approaches and identify novel genetic modifiers of sicklee cell disease. This brief review focuses on the recent advances in our understanding of the impact of non globin genetic modifiers on the phenotopic diversity of the disease.
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