hereditary spherocytosis

Summary

Summary: A group of familial congenital hemolytic anemias characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions.

Top Publications

  1. Mariani M, Barcellini W, Vercellati C, Marcello A, Fermo E, Pedotti P, et al. Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect. Haematologica. 2008;93:1310-7 pubmed publisher
    b>Hereditary spherocytosis is a very heterogeneous form of hemolytic anemia...
  2. Jarolim P, Rubin H, Liu S, Cho M, Brabec V, Derick L, et al. Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE). J Clin Invest. 1994;93:121-30 pubmed
    ..a duplication of 10 nucleotides (2,455-2,464) in the band 3 gene in a kindred with autosomal dominant hereditary spherocytosis and a partial deficiency of the band 3 protein that is reflected by decreased rate of transmembrane ..
  3. Salomao M, Chen K, Villalobos J, Mohandas N, An X, Chasis J. Hereditary spherocytosis and hereditary elliptocytosis: aberrant protein sorting during erythroblast enucleation. Blood. 2010;116:267-9 pubmed publisher
    ..During erythroblast enucleation, membrane proteins distribute between extruded nuclei and reticulocytes. In hereditary spherocytosis (HS) and hereditary elliptocytosis (HE), deficiencies of membrane proteins, in addition to those encoded ..
  4. Gauthier E, El Nemer W, Wautier M, Renaud O, Tchernia G, Delaunay J, et al. Role of the interaction between Lu/BCAM and the spectrin-based membrane skeleton in the increased adhesion of hereditary spherocytosis red cells to laminin. Br J Haematol. 2010;148:456-65 pubmed publisher
    ..It has been reported that Hereditary Spherocytosis red blood cells (HS RBC) exhibit increased adhesion to laminin...
  5. Rescorla F, West K, Engum S, Grosfeld J. Laparoscopic splenic procedures in children: experience in 231 children. Ann Surg. 2007;246:683-7; discussion 687-8 pubmed
    ..Indication for splenectomy was hereditary spherocytosis (111), immune thrombocytopenic purpura (36), sickle cell disease (SCD) (51), and other (25)...
  6. Eber S, Gonzalez J, Lux M, Scarpa A, Tse W, Dornwell M, et al. Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nat Genet. 1996;13:214-8 pubmed
    b>Hereditary spherocytosis (HS) is the most common inherited haemolytic anaemia in Northern Europeans...
  7. Carzavec D, Gacina P, Vasilj A, Katović S. Aplastic crisis induced by human parvovirus B19 as an initial presentation of hereditary spherocytosis. Coll Antropol. 2010;34:619-21 pubmed
    ..between aplastic crisis and human parvovirus (HPV) B19 infection has been described in patients with hereditary spherocytosis (HS)...
  8. Caprari P, Tarzia A, Mojoli G, Cianciulli P, Mannella E, Martorana M. Hereditary spherocytosis and elliptocytosis associated with prosthetic heart valve replacement: rheological study of erythrocyte modifications. Int J Hematol. 2009;89:285-293 pubmed publisher
    The implantation of a prosthetic heart valve (HVP) in patients with hereditary spherocytosis (HS) and hereditary elliptocytosis (HE) is rare, and the changes in the structure and deformability of erythrocytes that follow implantation in ..
  9. Ribeiro M, Alloisio N, Almeida H, Gomes C, Texier P, Lemos C, et al. Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. Blood. 2000;96:1602-4 pubmed
    Absence of band 3, associated with the mutation Coimbra (V488M) in the homozygous state, caused severe hereditary spherocytosis in a young child. Although prenatal testing was made available to the parents, it was declined...

More Information

Publications62

  1. Das M, Ananthakrishnan S. Hereditary spherocytosis in a family from Tamil Nadu. Indian Pediatr. 2005;42:610-1 pubmed
  2. Jarolim P, Murray J, Rubin H, Taylor W, Prchal J, Ballas S, et al. Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency. Blood. 1996;88:4366-74 pubmed
    b>Hereditary spherocytosis (HS) is a common hemolytic anemia of variable clinical expression. Pathogenesis of HS has been associated with defects of several red cell membrane proteins including erythroid band 3...
  3. Da Costa L, Mohandas N, Sorette M, Grange M, Tchernia G, Cynober T. Temporal differences in membrane loss lead to distinct reticulocyte features in hereditary spherocytosis and in immune hemolytic anemia. Blood. 2001;98:2894-9 pubmed
    Spherocytic red cells with reduced membrane surface area are a feature of hereditary spherocytosis (HS) and some forms of autoimmune hemolytic anemia (AIHA)...
  4. Perrotta S, Della Ragione F, Rossi F, Avvisati R, Di Pinto D, De Mieri G, et al. Beta-spectrinBari: a truncated beta-chain responsible for dominant hereditary spherocytosis. Haematologica. 2009;94:1753-7 pubmed publisher
    ..a beta-spectrin variant, named beta-spectrin Bari, characterized by a truncated chain and associated with hereditary spherocytosis. The clinical phenotype consists of a moderately severe hemolytic anemia, splenomegaly, and spherocytes ..
  5. Eber S, Lux S. Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer. Semin Hematol. 2004;41:118-41 pubmed
    The molecular causes of hereditary spherocytosis (HS) have been unraveled in the past decade. No frequent defect is found, and nearly every family has a unique mutation...
  6. Hansen E, Muensterer O. Single incision laparoscopic splenectomy in a 5-year-old with hereditary spherocytosis. JSLS. 2010;14:286-8 pubmed publisher
    ..Operative time was 84 minutes; blood loss was minimal. SILS splenectomy is feasible in pediatric patients. More experience is needed to assess advantages and disadvantages compared with the standard laparoscopic approach. ..
  7. Economou M, Tsatra I, Athanassiou Metaxa M. Simultaneous presence of Gilbert syndrome and hereditary spherocytosis: interaction in the pathogenesis of hyperbilirubinemia and gallstone formation. Pediatr Hematol Oncol. 2003;20:493-5 pubmed
  8. Ito D, Koshino I, Arashiki N, Adachi H, Tomihari M, Tamahara S, et al. Ubiquitylation-independent ER-associated degradation of an AE1 mutant associated with dominant hereditary spherocytosis in cattle. J Cell Sci. 2006;119:3602-12 pubmed
    Various mutations in the AE1 (anion exchanger 1, band 3) gene cause dominant hereditary spherocytosis, a common congenital hemolytic anemia associated with deficiencies of AE1 of different degrees and loss of mutant protein from red blood ..
  9. Chang Y, Shaw C, Jian S, Hsieh K, Chiou Y, Lu P. Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis. Kidney Int. 2009;76:774-83 pubmed publisher
    ..in the human anion exchanger 1 have been associated with inherited distal renal tubular acidosis and hereditary spherocytosis. These two disorders, however, are almost always mutually exclusive...
  10. Gallagher P, Nilson D, Wong C, Weisbein J, Garrett Beal L, Eber S, et al. A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis. Hum Mol Genet. 2005;14:2501-9 pubmed
    Ankyrin defects are the most common cause of hereditary spherocytosis (HS). In some HS patients, mutations in the ankyrin promoter have been hypothesized to lead to decreased ankyrin mRNA synthesis...
  11. Waugh R, Agre P. Reductions of erythrocyte membrane viscoelastic coefficients reflect spectrin deficiencies in hereditary spherocytosis. J Clin Invest. 1988;81:133-41 pubmed
    b>Hereditary spherocytosis is a common hemolytic anemia associated with deficiencies in spectrin, the principal structural protein of the erythrocyte membrane-skeleton...
  12. Montes Cano M, Rodríguez Muñoz F, Franco Osorio R, Nunez Roldan A, Gonzalez Escribano M. Hereditary spherocytosis associated with mutations in HFE gene. Ann Hematol. 2003;82:769-72 pubmed
    We report on a Spanish family in which three members of different generations were diagnosed with hereditary spherocytosis (HS)...
  13. Hanada T, Koike K, Takeya T, Nagasawa T, Matsunaga Y, Takita H. Human parvovirus B19-induced transient pancytopenia in a child with hereditary spherocytosis. Br J Haematol. 1988;70:113-5 pubmed
    We report a child with hereditary spherocytosis who developed human parvovirus B19 (HPV B19)-induced transient pancytopenia. Symptoms of acute-phase illness subsided promptly after infusion of gammaglobulin containing HPV B19 antibody...
  14. Alloisio N, Texier P, Vallier A, Ribeiro M, Morle L, Bozon M, et al. Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis. Blood. 1997;90:414-20 pubmed
    ..In 15 simple heterozygotes, it yielded a mild form of hereditary spherocytosis (HS) with band 3 deficiency (-20% +/- 2%) and a reduced number of 4,4'-diisothiocyano-1,2-diphenylethane-..
  15. Hassoun H, Vassiliadis J, Murray J, Yi S, Hanspal M, Ware R, et al. Molecular basis of spectrin deficiency in beta spectrin Durham. A deletion within beta spectrin adjacent to the ankyrin-binding site precludes spectrin attachment to the membrane in hereditary spherocytosis. J Clin Invest. 1995;96:2623-9 pubmed
    We describe a spectrin variant characterized by a truncated beta chain and associated with hereditary spherocytosis. The clinical phenotype consists of a moderate hemolytic anemia with striking spherocytosis and mild spiculation of the ..
  16. del Giudice E, Perrotta S, Nobili B, Specchia C, d Urzo G, Iolascon A. Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. Blood. 1999;94:2259-62 pubmed
    The precocious formation of bilirubinate gallstones is the most common complication of hereditary spherocytosis (HS), and the prevention of this problem represents a major impetus for splenectomy in many patients with compensated ..
  17. Perrotta S, Gallagher P, Mohandas N. Hereditary spherocytosis. Lancet. 2008;372:1411-26 pubmed publisher
    b>Hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. It is reported worldwide and is the most common inherited anaemia in individuals of northern European ancestry...
  18. Liao E, Paw B, Peters L, Zapata A, Pratt S, Do C, et al. Hereditary spherocytosis in zebrafish riesling illustrates evolution of erythroid beta-spectrin structure, and function in red cell morphogenesis and membrane stability. Development. 2000;127:5123-32 pubmed
    ..Further, we propose that the distinct mammalian erythroid morphology may have evolved from specific modifications of Sptb structure and function. ..
  19. Granjo E, Bauerle R, Sampaio R, Manata P, Torres N, Quintanilha A. Extramedullary hematopoiesis in hereditary spherocytosis deficient in ankyrin: a case report. Int J Hematol. 2002;76:153-6 pubmed
    b>Hereditary spherocytosis (HS) is a common inherited hemolytic anemia due to red cell membrane defects. Extramedullary hematopoiesis is a compensatory response to insufficient bone marrow blood cell production...
  20. Rocha S, Costa E, Rocha Pereira P, Ferreira F, Cleto E, Barbot J, et al. Erythrocyte membrane protein destabilization versus clinical outcome in 160 Portuguese Hereditary Spherocytosis patients. Br J Haematol. 2010;149:785-94 pubmed publisher
    b>Hereditary Spherocytosis (HS) is a haemolytic anaemia caused by erythrocyte protein membrane defects - spectrin, ankyrin, band 3 or protein 4.2 - that lead to membrane destabilization...
  21. Beauchamp Nicoud A, Morle L, Lutz H, Stammler P, Agulles O, Petermann Khder R, et al. Heavy transfusions and presence of an anti-protein 4.2 antibody in 4. 2(-) hereditary spherocytosis (949delG). Haematologica. 2000;85:19-24 pubmed
    A patient with hereditary spherocytosis (HS) was found not to have red cell membrane protein 4.2. This rare form of HS, or 4.2 (-) HS, stems from mutations within the ELB42 or the EPB3 genes...
  22. Xiros N, Economopoulos T, Papageorgiou E, Mantzios G, Raptis S. Massive hemothorax due to intrathoracic extramedullary hematopoiesis in a patient with hereditary spherocytosis. Ann Hematol. 2001;80:38-40 pubmed
    ..We report on a 64-year-old man with hereditary spherocytosis, who presented with anemia, jaundice, intrathoracic EMH, and massive hemothorax...
  23. Peters L, Shivdasani R, Liu S, Hanspal M, John K, Gonzalez J, et al. Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton. Cell. 1996;86:917-27 pubmed
    ..We postulate that stabilization is achieved through AE1-lipid interactions and that loss of these interactions is a key pathogenic event in hereditary spherocytosis.
  24. Oh S, Kim J, Choi C, Park K, Jung J, Park Y, et al. An adult with aplastic crisis induced by human parvovirus B19 as an initial presentation of hereditary spherocytosis. Korean J Intern Med. 2005;20:96-9 pubmed
    ..This association has also been described, although much less frequently, in patients with hereditary spherocytosis (HS)...
  25. Panigrahi I, Phadke S, Agarwal A, Gambhir S, Agarwal S. Clinical profile of hereditary spherocytosis in North India. J Assoc Physicians India. 2002;50:1360-7 pubmed
    b>Hereditary spherocytosis (HS) is a familial hemolytic disorder manifesting as anaemia, recurrent jaundice, splenomegaly with marked heterogeneity in clinical presentation...
  26. Bolton Maggs P, Stevens R, Dodd N, Lamont G, Tittensor P, King M. Guidelines for the diagnosis and management of hereditary spherocytosis. Br J Haematol. 2004;126:455-74 pubmed
    b>Hereditary spherocytosis (HS) is a heterogeneous group of disorders with regard to clinical severity, protein defects and mode of inheritance...
  27. Brandenberg J, Demarmels Biasiutti F, Lutz H, Wuillemin W. Hereditary spherocytosis and hemochromatosis. Ann Hematol. 2002;81:202-9 pubmed
    ..Clinical investigations revealed the presence of both hemochromatosis and hereditary spherocytosis (HS)...
  28. Bruce L, Ghosh S, King M, Layton D, Mawby W, Stewart G, et al. Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex. Blood. 2002;100:1878-85 pubmed
    We present data on a patient of South Asian origin with recessive hereditary spherocytosis (HS) due to absence of protein 4.2 [4.2 (-) HS]. Protein 4...
  29. Zhou Z, DeSensi S, Stein R, Brandon S, Song L, Cobb C, et al. Structure of the cytoplasmic domain of erythrocyte band 3 hereditary spherocytosis variant P327R: band 3 Tuscaloosa. Biochemistry. 2007;46:10248-57 pubmed
    ..2 binding surface on cdb3 as well as new insight into the structural basis of the membrane destabilization. ..
  30. Tanner M. Band 3 anion exchanger and its involvement in erythrocyte and kidney disorders. Curr Opin Hematol. 2002;9:133-9 pubmed
    Recent developments in the structure of erythrocyte band 3 and its role in hereditary spherocytosis and distal renal tubular acidosis are described...
  31. Bolton Maggs P. Hereditary spherocytosis; new guidelines. Arch Dis Child. 2004;89:809-12 pubmed
  32. Tamary H, Aviner S, Freud E, Miskin H, Krasnov T, Schwarz M, et al. High incidence of early cholelithiasis detected by ultrasonography in children and young adults with hereditary spherocytosis. J Pediatr Hematol Oncol. 2003;25:952-4 pubmed
    Retrospective cholecystography studies in adults with hereditary spherocytosis (HS) suggested detectable gallstones in 37% to 43% of patients...
  33. Wandersee N, Olson S, Holzhauer S, Hoffmann R, Barker J, Hillery C. Increased erythrocyte adhesion in mice and humans with hereditary spherocytosis and hereditary elliptocytosis. Blood. 2004;103:710-6 pubmed
    ..005). While the mechanism of infarction in these mice is unknown, we speculate that changes in RBC adhesive characteristics contribute to this pathology. ..
  34. Miraglia del Giudice E, Vallier A, Maillet P, Perrotta S, Cutillo S, Iolascon A, et al. Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus. Br J Haematol. 1997;96:70-6 pubmed
    We report three novel variants of band 3 associated with hereditary spherocytosis: band 3 Foggia (311delC; ACCCAC-->ACCAC), band 3 Napoli I (447insT; TCT-->TTCT) and band 3 Napoli II (1783N; ATC-->AAC)...
  35. Iolascon A, Miraglia del Giudice E, Perrotta S, Alloisio N, Morle L, Delaunay J. Hereditary spherocytosis: from clinical to molecular defects. Haematologica. 1998;83:240-57 pubmed
    ..Their structure as well as the structure of the corresponding genes are now well known. Hereditary spherocytosis (HS) is the most common hemolytic anemia due to a red cell membrane defect...
  36. Magni P, Quaglini S, Marchetti M, Barosi G. Deciding when to intervene: a Markov decision process approach. Int J Med Inform. 2000;60:237-53 pubmed
    ..processes (MPPs) is then proposed and applied to a medical problem: the prophylactic surgery in mild hereditary spherocytosis. The paper compares the proposed approach with a static approach on the same medical problem...
  37. Celkan T, Alhaj S. Prenatal diagnosis of hereditary spherocytosis with osmotic fragility test. Indian Pediatr. 2008;45:63-4 pubmed
  38. Dutta S, Price V, Blanchette V, Langer J. A laparoscopic approach to partial splenectomy for children with hereditary spherocytosis. Surg Endosc. 2006;20:1719-24 pubmed
    Partial splenectomy is sometimes used for children with hereditary spherocytosis (HS) to reduce hemolysis while retaining some splenic immune function...
  39. Delaunay J, Nouyrigat V, Proust A, Schischmanoff P, Cynober T, Yvart J, et al. Different impacts of alleles alphaLEPRA and alphaLELY as assessed versus a novel, virtually null allele of the SPTA1 gene in trans. Br J Haematol. 2004;127:118-22 pubmed
    The family of two siblings with severe hereditary spherocytosis was investigated. The decrease was evident on both the alpha- and the beta-chains. The parents were haematologically normal...
  40. Kedar P, Colah R, Ghosh K, Mohanty D. Hereditary spherocytosis in association with severe G6PD deficiency: report of an unusual case. Clin Chim Acta. 2004;344:221-4 pubmed
  41. Jardine D, Laing A. Delayed pulmonary hypertension following splenectomy for congenital spherocytosis. Intern Med J. 2004;34:214-6 pubmed
  42. Maciag M, Płochocka D, Adamowicz Salach A, Burzynska B. Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. Br J Haematol. 2009;146:326-32 pubmed publisher
    b>Hereditary spherocytosis (HS) is one of the most frequent and heterogeneous inherited haemolytic anaemias. It is associated with abnormalities of several erythrocyte membrane proteins...
  43. Ustun C, Kutlar F, Holley L, Seigler M, Burgess R, Kutlar A. Interaction of sickle cell trait with hereditary spherocytosis: splenic infarcts and sequestration. Acta Haematol. 2003;109:46-9 pubmed
    The association of sickle cell trait (SCT) and hereditary spherocytosis (HS) has been reported in only 18 patients. Three of these 18 patients experienced splenic infarct or acute splenic sequestration...
  44. Eber S, Langendörfer C, Ditzig M, Reinhardt D, Stohr G, Soldan W, et al. Frequency of very late fatal sepsis after splenectomy for hereditary spherocytosis: impact of insufficient antibody response to pneumococcal infection. Ann Hematol. 1999;78:524-8 pubmed
    Very late sepsis in splenectomized patients with hereditary spherocytosis has been seen rarely up to now; the frequency and the immunodeficiency causing it are largely unknown...
  45. Suzuki Y, Shichishima T, Mukae M, Ohsaka M, Hayama M, Horie R, et al. Splenic infarction after Epstein-Barr virus infection in a patient with hereditary spherocytosis. Int J Hematol. 2007;85:380-3 pubmed
    We describe the first patient with hereditary spherocytosis (HS) known to have developed splenic infarction following infectious mononucleosis (IM)...
  46. Vicari P, Arantes A, Figueiredo M. Sickle cell trait associated with hereditary spherocytosis: a potentially life-threatening coexistence. Acta Haematol. 2003;110:223 pubmed
  47. Troendle S, Adix L, Crary S, Buchanan G. Laboratory markers of thrombosis risk in children with hereditary spherocytosis. Pediatr Blood Cancer. 2007;49:781-5 pubmed
    Recent data suggest that adults with hereditary spherocytosis (HS) may be protected from atherothrombosis before splenectomy but have increased risk of thrombosis following splenectomy...
  48. Smedema J, Louw V. Pulmonary arterial hypertension after splenectomy for hereditary spherocytosis. Cardiovasc J Afr. 2007;18:84-9 pubmed
    b>Hereditary spherocytosis consists of a group of haemolytic anaemias caused by defects in the proteins involved in the vertical interactions between the membrane skeleton and the lipid bilayer of the red blood cell...
  49. King M, Smythe J, Mushens R. Eosin-5-maleimide binding to band 3 and Rh-related proteins forms the basis of a screening test for hereditary spherocytosis. Br J Haematol. 2004;124:106-13 pubmed
    ..analysis of eosin-5-maleimide (EMA) binding to red cells is a screening test for the diagnosis of hereditary spherocytosis (HS)...
  50. Granel B, Serratrice J, Rey J, David M, Pache X, Bernit E, et al. [Acute transitory intrafamilial erythroblastopenia and hereditary spherocytosis: role of parvovirus B19]. Rev Med Interne. 2001;22:664-7 pubmed
    ..crisis with good outcome, occurring at the same time in a mother and her son, both suffering from hereditary spherocytosis. Diagnosis of parvovirus infection is based on detection of serum parvovirus B19-specific immunoglobulin ..
  51. Rocha S, Rebelo I, Costa E, Catarino C, Belo L, Castro E, et al. Protein deficiency balance as a predictor of clinical outcome in hereditary spherocytosis. Eur J Haematol. 2005;74:374-80 pubmed
    ..Disruption of vertical interactions caused by membrane protein deficiencies in hereditary spherocytosis (HS), favor membrane vesiculation with development of spherocytic cells...
  52. Reliene R, Mariani M, Zanella A, Reinhart W, Ribeiro M, del Giudice E, et al. Splenectomy prolongs in vivo survival of erythrocytes differently in spectrin/ankyrin- and band 3-deficient hereditary spherocytosis. Blood. 2002;100:2208-15 pubmed
    ..immunoglobulin G (IgG) were studied to better understand premature clearance of erythrocytes in hereditary spherocytosis. Averaged deformability profiles from cells having comparable cell age revealed that splenectomy was more ..
  53. Basseres D, Tavares A, Costa F, Saad S. beta-Spectrin São PauloII, a novel frameshift mutation of the beta-spectrin gene associated with hereditary spherocytosis and instability of the mutant mRNA. Braz J Med Biol Res. 2002;35:921-5 pubmed
    b>Hereditary spherocytosis (HS) is a common inherited anemia characterized by the presence of spherocytic red cells. Defects in several membrane protein genes have been involved in the pathogenesis of HS...