KEGG   DISEASE: Hereditary spherocytosis
Entry
H00230                      Disease                                
Name
Hereditary spherocytosis
Description
Hereditary spherocytosis (SPH) is a heterogeneous group of disorders characterized by rounded red cells and chronic hemolysis.
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
      H00230  Hereditary spherocytosis
Gene
(SPH1) ANK1 [HSA:286] [KO:K10380]
(SPH2) SPTB [HSA:6710] [KO:K27409]
(SPH3) SPTA1 [HSA:6708] [KO:K27408]
(SPH4) SLC4A1 [HSA:6521] [KO:K06573]
(SPH5) EPB42 [HSA:2038] [KO:K25094]
Other DBs
ICD-11: 3A10.Y
MeSH: D013103
OMIM: 182900 616649 270970 612653 612690
Reference
  Authors
Bolton-Maggs PH, Stevens RF, Dodd NJ, Lamont G, Tittensor P, King MJ
  Title
Guidelines for the diagnosis and management of hereditary spherocytosis.
  Journal
Br J Haematol 126:455-74 (2004)
DOI:10.1111/j.1365-2141.2004.05052.x
Reference
  Authors
Eber S, Lux SE
  Title
Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer.
  Journal
Semin Hematol 41:118-41 (2004)
DOI:10.1053/j.seminhematol.2004.01.002
Reference
PMID:8640229 (ANK1)
  Authors
Eber SW, Gonzalez JM, Lux ML, Scarpa AL, Tse WT, Dornwell M, Herbers J, Kugler W, Ozcan R, Pekrun A, Gallagher PG, Schroter W, Forget BG, Lux SE
  Title
Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.
  Journal
Nat Genet 13:214-8 (1996)
DOI:10.1038/ng0696-214
Reference
PMID:19538529 (SPTB)
  Authors
Maciag M, Plochocka D, Adamowicz-Salach A, Burzynska B
  Title
Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA.
  Journal
Br J Haematol 146:326-32 (2009)
DOI:10.1111/j.1365-2141.2009.07759.x
Reference
PMID:8370581 (SPTA1)
  Authors
Boivin P, Galand C, Devaux I, Lecomte MC, Garbarz M, Dhermy D
  Title
Spectrin alpha IIa variant in dominant and non-dominant spherocytosis.
  Journal
Hum Genet 92:153-6 (1993)
DOI:10.1007/BF00219683
Reference
PMID:9233560 (SLC4A1)
  Authors
Dhermy D, Galand C, Bournier O, Boulanger L, Cynober T, Schismanoff PO, Bursaux E, Tchernia G, Boivin P, Garbarz M
  Title
Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects.
  Journal
Br J Haematol 98:32-40 (1997)
DOI:10.1046/j.1365-2141.1997.1893005.x
Reference
PMID:2139792 (EPB42)
  Authors
Ideguchi H, Nishimura J, Nawata H, Hamasaki N
  Title
A genetic defect of erythrocyte band 4.2 protein associated with hereditary spherocytosis.
  Journal
Br J Haematol 74:347-53 (1990)
DOI:10.1111/j.1365-2141.1990.tb02594.x

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