Article
Pathophysiology of sickle cell disease: role of cellular and genetic modifiers.
Seminars in hematology - 1 Oct 2001
Steinberg M H, Rodgers G P
Abstract excerpt
Sickle hemoglobin (HbS), caused by a point mutation in the beta-globin gene of hemoglobin, polymerizes when deoxygenated. The pathophysiology of sickle cell disease results from cellular defects caused directly by the hemoglobin mutation interacting with the environment and many other gene products--a few known, but most yet unidentified--a typical example of epistasis. How normal tissue perfusion is interrupted...
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