Hereditary spherocytosis

Definition:

Hereditary spherocytosis (SPH) is a heterogeneous group of disorders characterized by rounded red cells and chronic hemolysis.

References:

[1]. D Dhermy, et al. Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects. Br J Haematol. 1997 Jul;98(1):32-40. [Content Brief]

[2]. H Ideguchi, et al. A genetic defect of erythrocyte band 4.2 protein associated with hereditary spherocytosis. Br J Haematol. 1990 Mar;74(3):347-53. [Content Brief]

[3]. Monika Maciag, et al. Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. Br J Haematol. 2009 Aug;146(3):326-32. [Content Brief]

[4]. P Boivin, et al. Spectrin alpha IIa variant in dominant and non-dominant spherocytosis. Hum Genet. 1993 Sep;92(2):153-6. [Content Brief]

[5]. P H B Bolton-Maggs, et al. Guidelines for the diagnosis and management of hereditary spherocytosis. Br J Haematol. 2004 Aug;126(4):455-74. [Content Brief]

[6]. S W Eber, et al. Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nat Genet. 1996 Jun;13(2):214-8. [Content Brief]

[7]. Stefan Eber, et al. Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer. Semin Hematol. 2004 Apr;41(2):118-41. [Content Brief]

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