Top: Health: Conditions and Diseases: Blood Disorders: Anemia: Sickle Cell Anemia


[ history ]

General Information

Sickle cell anemia (SCA) is an autosomal recessive disorder that affects the structure of hemaglobin (Hb). In low oxygen levels, the mutant hemaglobin molecules clump and the red blood cells (RBC) are deformed into a sickle-like shape. This differs from their normal doughnut shape. Sickle cell RBCs become trapped in capillary walls, causing pain and possibly damaging organs.

Although this disease can affect practically any ethnicity, sickle cell anemia predominantly occurs in the African-American population. One in ten African-Americans is a carrier of the defective gene.


[ history ]

Disease Etiology

SCA arises from a missense mutation (glutamine to valine) in residue 6 of the beta subunit of hemoglobin. The nonpolarity of valine, located on in a normally exposed region of the molecule, favors hydrophobic interactions with phenylalanine 85 and leucine 88 in other beta subunits. In low oxygen concentrations, multiple subunits bind and reduce the solubility of the polymeric beta subunits.



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