Hereditary spherocytosis pathophysiology: Difference between revisions

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Revision as of 21:00, 20 February 2018

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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 ==Overview==
 ==Pathophysiology==
-Hereditary spherocytosis is an [[autosomal dominant]] trait, most commonly (though not exclusively) found in Northern European and Japanese families, although an estimated 25% of cases are due to spontaneous [[mutation]]s.  A patient has a 50% chance of passing the disorder onto his/her offspring, presuming that his/her partner does not also carry the mutation.
+*
-Hereditary spherocytosis is caused by a variety of molecular defects in the genes that code for [[spectrin]], [[ankyrin]], [[protein 4.1]], and other erythrocyte membrane proteins. These proteins are necessary to maintain the normal shape of an erythrocyte, which is a biconcave disk.  The protein that is most commonly defective is [[ankyrin]]. As the spleen normally targets abnormally shaped red cells (which are typically older), it also destroys spherocytes.
-===Associated Conditions===
-*[[Hereditary elliptocytosis]]
-*[[Pyropoikilocytosis]] or [[stomatocytosis]]
 ==References==