Hereditary elliptocytosis: spectrin and protein 4.1 R

PG Gallagher - Seminars in hematology, 2004 - Elsevier
Hereditary elliptocytosis (HE) is a common disorder of erythrocyte shape, occurring
especially in individuals of African and Mediterranean ancestry, presumably because
elliptocytes confer some resistance to malaria. The principle lesion in HE is mechanical
weakness or fragility of the erythrocyte membrane skeleton due to defects in α-spectrin, β-
spectrin, or protein 4.1. Numerous mutations have been described in the genes encoding
these proteins, including point mutations, gene deletions and insertions, and mRNA …