KEGG   DISEASE: Hereditary elliptocytosis
Entry
H00231                      Disease                                
Name
Hereditary elliptocytosis
Description
Hereditary elliptocytosis (EL) is an autosomal dominant hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia caused by fragility of the erythrocyte membrane skeleton due to defects in alpha-spectrin, beta-spectrin, or protein 4.1.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   Haemolytic anaemias
    Congenital haemolytic anaemia
     3A10  Hereditary haemolytic anaemia
      H00231  Hereditary elliptocytosis
Gene
(EL1) EPB41 [HSA:2035] [KO:K06107]
(EL2) SPTA1 [HSA:6708] [KO:K27408]
(EL3) SPTB [HSA:6710] [KO:K27409]
Other DBs
ICD-11: 3A10.2
MeSH: D004612
OMIM: 611804 130600 617948
Reference
PMID:18341630
  Authors
An X, Mohandas N
  Title
Disorders of red cell membrane.
  Journal
Br J Haematol 141:367-75 (2008)
DOI:10.1111/j.1365-2141.2008.07091.x
Reference
PMID:16730867
  Authors
Delaunay J
  Title
The molecular basis of hereditary red cell membrane disorders.
  Journal
Blood Rev 21:1-20 (2007)
DOI:10.1016/j.blre.2006.03.005
Reference
PMID:15071791 (EPB41 SPTA1 SPTB)
  Authors
Gallagher PG
  Title
Hereditary elliptocytosis: spectrin and protein 4.1R.
  Journal
Semin Hematol 41:142-64 (2004)
DOI:10.1053/j.seminhematol.2004.01.003

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Disease (3)   
   OMIM (3)   
All databases (3)   

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