Article
Beyond the definitions of the phenotypic complications of sickle cell disease: an update on management.
TheScientificWorldJournal - 1 Jan 2012
Ballas Samir K, Kesen Muge R, Goldberg Morton F, Lutty Gerard A, Dampier Carlton, Osunkwo Ifeyinwa, Wang Winfred C, Hoppe Carolyn, Hagar Ward, Darbari Deepika S, Malik Punam
Abstract excerpt
The sickle hemoglobin is an abnormal hemoglobin due to point mutation (GAG → GTG) in exon 1 of the β globin gene resulting in the substitution of glutamic acid by valine at position 6 of the β globin polypeptide chain. Although the molecular lesion is a single-point mutation, the sickle gene is pleiotropic in nature causing multiple phenotypic expressions that constitute the various complications of sickle cell...
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