GTR Home > Conditions/Phenotypes > Hereditary spherocytosis

Summary

Hereditary spherocytosis refers to a group of heterogeneous disorders that are characterized by the presence of spherical-shaped erythrocytes (spherocytes) on the peripheral blood smear. The disorders are characterized clinically by anemia, jaundice, and splenomegaly, with variable severity. Common complications include cholelithiasis, hemolytic episodes, and aplastic crises (review by Perrotta et al., 2008). Elgsaeter et al. (1986) gave an extensive review of the molecular basis of erythrocyte shape with a discussion of the role of spectrin and other proteins such as ankyrin, actin (102630), band 4.1 (130500), and band 3 (109270), all of which is relevant to the understanding of spherocytosis and elliptocytosis (see 611904). See Delaunay (2007) for a discussion of the molecular basis of hereditary red cell membrane disorders. Genetic Heterogeneity of Hereditary Spherocytosis Also see spherocytosis type 2 (see 182870), caused by mutation in the SPTB gene (182870) on chromosome 14q22-q23; spherocytosis type 3 (270970), caused by mutation in the SPTBA gene (182860) on chromosome 1q21; spherocytosis type 4 (see 109270), caused by mutation in the SLC4A1 gene (109270) on chromosome 17q21-q22; and spherocytosis type 5 (612690), caused by mutation in the EPB42 gene (177070) on chromosome 15q15. [from OMIM]

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Clinical features

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  • Splenomegaly
  • Reticulocytosis
  • Hyperbilirubinemia
  • Spherocytosis
  • Jaundice
  • Cholelithiasis
  • Hemolytic anemia
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