Hereditary elliptocytosis: spectrin and protein 4.1R.
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 alpha-spectrin, beta-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 processing defects. Several mutations have been identified in a number of individuals on the same genetic background, suggesting a "founder effect." The majority of HE patients are asymptomatic, but some may experience hemolytic anemia, splenomegaly, and intermittent jaundice.
Gallagher
Patrick G
PG
Department of Pediatrics, Yale University School of Medicine, 333 Cedar Street, PO Box 208064, New Haven, CT 06520-8064, USA.
D044383:Black People; D003598:Cytoskeletal Proteins / Q000235:genetics* / Q000378:metabolism*; D004612:Elliptocytosis, Hereditary / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D004913:Erythrocytes, Abnormal / Q000378:metabolism / Q000502:physiology; D018703:Founder Effect; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism*; D009154:Mutation / Q000235:genetics / Q000502:physiology; D012323:RNA Processing, Post-Transcriptional / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D013049:Spectrin / Q000235:genetics* / Q000378:metabolism*; D013163:Splenomegaly / Q000151:congenital / Q000473:pathology
D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; D012333:RNA, Messenger; C028841:erythrocyte membrane band 4.1 protein; D013049:Spectrin