Entry
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
BRITE hierarchy
Gene
Other DBs
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
Reference
Authors
Eber S, Lux SE
Title
Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer.
Journal
Reference
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
Reference
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
Reference
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
Reference
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
Reference
Authors
Ideguchi H, Nishimura J, Nawata H, Hamasaki N
Title
A genetic defect of erythrocyte band 4.2 protein associated with hereditary spherocytosis.
Journal