Abnormalities of the erythrocyte membrane

Pediatric Clinics of North America

Volumn 60, Issue 6, 2013, Pages 1349-1362

  Gallagher, Patrick G ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Anemia; Erythrocyte membrane; Hereditary elliptocytosis; Hereditary pyropoikilocytosis; Hereditary spherocytosis; Splenectomy

Indexed keywords

FOLIC ACID;

APLASTIC ANEMIA; BLOOD CELL COUNT; BLOOD SMEAR; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; ELLIPTOCYTOSIS; ERYTHROCYTE DEFORMABILITY; ERYTHROCYTE DISORDER; ERYTHROCYTE FRAGILITY; ERYTHROCYTE MEMBRANE; GALLBLADDER DISEASE; HEMOLYSIS; HEMOLYTIC ANEMIA; HEREDITARY PYROPOIKILOCYTOSIS; HEREDITARY SPHEROCYTOSIS; HUMAN; MEAN CORPUSCULAR VOLUME; MOLECULAR DIAGNOSIS; NONHUMAN; ONSET AGE; PHYSICAL EXAMINATION; RETICULOCYTE COUNT; REVIEW; SPLENECTOMY;

ANEMIA; ERYTHROCYTE MEMBRANE; HEREDITARY ELLIPTOCYTOSIS; HEREDITARY PYROPOIKILOCYTOSIS; HEREDITARY SPHEROCYTOSIS; SPLENECTOMY;

ANEMIA, HEMOLYTIC, CONGENITAL; ELLIPTOCYTOSIS, HEREDITARY; ERYTHROCYTE MEMBRANE; ERYTHROCYTES; HUMANS; SPHEROCYTOSIS, HEREDITARY; SPLENECTOMY;

EID: 84887618264     PISSN: 00313955     EISSN: 15578240     Source Type: Journal    
DOI: 10.1016/j.pcl.2013.09.001     Document Type: Review

References (61)

1. Da Costa L., Galimand J., Fenneteau O., et al. Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. Blood Rev 2013, [Epub ahead of print]. 10.1016/j.blre.2013.04.003.
2. Perrotta S., Gallagher P.G., Mohandas N. Hereditary spherocytosis. Lancet 2008, 372:1411-1426.
3. Eber S., Lux S.E. Hereditary spherocytosis-defects in proteins that connect the membrane skeleton to the lipid bilayer. Semin Hematol 2004, 41:118-141.
4. Mohandas N., Gallagher P.G. Red cell membrane: past, present, and future. Blood 2008, 112:3939-3948.
5. Lusher J.M., Barnhart M.I. The role of the spleen in the pathoophysiology of hereditary spherocytosis and hereditary elliptocytosis. Am J Pediatr Hematol Oncol 1980, 2:31-39.
6. Safeukui I., Buffet P.A., Deplaine G., et al. Quantitative assessment of sensing and sequestration of spherocytic erythrocytes by the human spleen. Blood 2012, 120:424-430.
7. Gallagher P.G. Update on the clinical spectrum and genetics of red blood cell membrane disorders. Curr Hematol Rep 2004, 3:85-91.
8. Miraglia del Giudice E., Francese M., Nobili B., et al. High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis. JPediatr 1998, 132:117-120.
9. Miraglia del Giudice E., Lombardi C., Francese M., et al. Frequent de novo monoallelic expression of beta-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency. Br J Haematol 1998, 101:251-254.
10. Eber S.W., Armbrust R., Schroter W. Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis. JPediatr 1990, 117:409-416.
11. Rocha S., Costa E., Catarino C., et al. Erythropoietin levels in the different clinical forms of hereditary spherocytosis. Br J Haematol 2005, 131:534-542.
12. Agre P., Asimos A., Casella J.F., et al. Inheritance pattern and clinical response to splenectomy as a reflection of erythrocyte spectrin deficiency in hereditary spherocytosis. NEngl J Med 1986, 315:1579-1583.
13. Agre P., Casella J.F., Zinkham W.H., et al. Partial deficiency of erythrocyte spectrin in hereditary spherocytosis. Nature 1985, 314:380-383.
14. Agre P., Orringer E.P., Bennett V. Deficient red-cell spectrin in severe, recessively inherited spherocytosis. NEngl J Med 1982, 306:1155-1161.
15. Delhommeau F., Cynober T., Schischmanoff P.O., et al. Natural history of hereditary spherocytosis during the first year of life. Blood 2000, 95:393-397.
16. Christensen R.D., Henry E. Hereditary spherocytosis in neonates with hyperbilirubinemia. Pediatrics 2010, 125:120-125.
17. Ribeiro M.L., Alloisio N., Almeida H., et al. Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. Blood 2000, 96:1602-1604.
18. Whitfield C.F., Follweiler J.B., Lopresti-Morrow L., et al. Deficiency of alpha-spectrin synthesis in burst-forming units-erythroid in lethal hereditary spherocytosis. Blood 1991, 78:3043-3051.
19. Delaunay J., Nouyrigat V., Proust A., 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, 127:118-122.
20. Guarnone R., Centenara E., Zappa M., et al. Erythropoietin production and erythropoiesis in compensated and anaemic states of hereditary spherocytosis. Br J Haematol 1996, 92:150-154.
21. Michaels L.A., Cohen A.R., Zhao H., et al. Screening for hereditary spherocytosis by use of automated erythrocyte indexes. JPediatr 1997, 130:957-960.
22. Brugnara C., Mohandas N. Red cell indices in classification and treatment of anemias: from M.M. Wintrobes's original 1934 classification to the third millennium. Curr Opin Hematol 2013, 20:222-230.
23. Cynober T., Mohandas N., Tchernia G. Red cell abnormalities in hereditary spherocytosis: relevance to diagnosis and understanding of the variable expression of clinical severity. JLab Clin Med 1996, 128:259-269.
24. Hassoun H., Vassiliadis J.N., Murray J., et al. Characterization of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency. Blood 1997, 90:398-406.
25. Jarolim P., Murray J.L., Rubin H.L., et al. Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency. Blood 1996, 88:4366-4374.
26. King M.J., Smythe J.S., 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, 124:106-113.
27. Bianchi P., Fermo E., Vercellati C., et al. Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics. Haematologica 2012, 97:516-523.
28. King M.J., Zanella A. Hereditary red cell membrane disorders and laboratory diagnostic testing. Int J Lab Hematol 2013, 35:237-243.
29. D'Alcamo E., Agrigento V., Sclafani S., et al. Reliability of EMA binding test in the diagnosis of hereditary spherocytosis in Italian patients. Acta Haematol 2011, 125:136-140.
30. Bolton-Maggs P.H., Langer J.C., Iolascon A., et al. Guidelines for the diagnosis and management of hereditary spherocytosis-2011 update. Br J Haematol 2012, 156:37-49.
31. King M.J., Telfer P., MacKinnon H., et al. Using the eosin-5-maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis. Cytometry B Clin Cytom 2008, 74:244-250.
32. Smith J., Rahilly M., Davidson K. Extramedullary haematopoiesis secondary to hereditary spherocytosis. Br J Haematol 2011, 154:543.
33. Rabhi S., Benjelloune H., Meziane M., et al. Hereditary spherocytosis with leg ulcers healing after splenectomy. South Med J 2011, 104:150-152.
34. Young N.S. Hematologic manifestations and diagnosis of parvovirus B19 infections. Clin Adv Hematol Oncol 2006, 4:908-910.
35. Lefrere J.J., Courouce A.M., Girot R., et al. Six cases of hereditary spherocytosis revealed by human parvovirus infection. Br J Haematol 1986, 62:653-658.
36. Delamore I.W., Richmond J., Davies S.H. Megaloblastic anaemia in congenital spherocytosis. Br Med J 1961, 1:543-545.
37. Baird R.N., Macpherson A.I., Richmond J. Red-blood-cell survival after splenectomy in congenital spherocytosis. Lancet 1971, 2:1060-1061.
38. Schilling R.F. Risks and benefits of splenectomy versus no splenectomy for hereditary spherocytosis-a personal view. Br J Haematol 2009, 145:728-732.
39. Crary S.E., Ramaciotti C., Buchanan G.R. Prevalence of pulmonary hypertension in hereditary spherocytosis. Am J Hematol 2011, 86:E73-E76.
40. Hayag-Barin J.E., Smith R.E., Tucker F.C. Hereditary spherocytosis, thrombocytosis, and chronic pulmonary emboli: a case report and review of the literature. Am J Hematol 1998, 57:82-84.
41. Schilling R.F., Gangnon R.E., Traver M.I. Delayed adverse vascular events after splenectomy in hereditary spherocytosis. JThromb Haemost 2008, 6:1289-1295.
42. Casale M., Perrotta S. Splenectomy for hereditary spherocytosis: complete, partial or not at all?. Expert Rev Hematol 2011, 4:627-635.
43. Wood J.H., Partrick D.A., Hays T., et al. Contemporary pediatric splenectomy: continuing controversies. Pediatr Surg Int 2011, 27:1165-1171.
44. Rescorla F.J., Engum S.A., West K.W., et al. Laparoscopic splenectomy has become the gold standard in children. Am Surg 2002, 68:297-301. [discussion: 301-2].
45. Rice H.E., Oldham K.T., Hillery C.A., et al. Clinical and hematologic benefits of partial splenectomy for congenital hemolytic anemias in children. Ann Surg 2003, 237:281-288.
46. Buesing K.L., Tracy E.T., Kiernan C., et al. Partial splenectomy for hereditary spherocytosis: a multi-institutional review. JPediatr Surg 2011, 46:178-183.
47. Grace R.F., Mednick R.E., Neufeld E.J. Compliance with immunizations in splenectomized individuals with hereditary spherocytosis. Pediatr Blood Cancer 2009, 52:865-867.
48. Dhermy D., Garbarz M., Lecomte M.C., et al. Hereditary elliptocytosis: clinical, morphological and biochemical studies of 38 cases. Nouv Rev Fr Hematol 1986, 28:129-140.
49. Gallagher P.G. Hereditary elliptocytosis: spectrin and protein 4.1R. Semin Hematol 2004, 41:142-164.
50. Dhermy D., Schrevel J., Lecomte M.C. Spectrin-based skeleton in red blood cells and malaria. Curr Opin Hematol 2007, 14:198-202.
51. Glele-Kakai C., Garbarz M., Lecomte M.C., et al. Epidemiological studies of spectrin mutations related to hereditary elliptocytosis and spectrin polymorphisms in Benin. Br J Haematol 1996, 95:57-66.
52. Zarkowsky H.S., Mohandas N., Speaker C.B., et al. Acongenital haemolytic anaemia with thermal sensitivity of the erythrocyte membrane. Br J Haematol 1975, 29:537-543.
53. Costa D.B., Lozovatsky L., Gallagher P.G., et al. Anovel splicing mutation of the {alpha}-spectrin gene in the original hereditary pyropoikilocytosis kindred. Blood 2005, 106:4367-4369.
54. Gaetani M., Mootien S., Harper S., et al. Structural and functional effects of hereditary hemolytic anemia-associated point mutations in the alpha spectrin tetramer site. Blood 2008, 111:5712-5720.
55. Ipsaro J.J., Harper S.L., Messick T.E., et al. Crystal structure and functional interpretation of the erythrocyte spectrin tetramerization domain complex. Blood 2010, 115:4843-4852.
56. Morrow J.S., Rimm D.L., Kennedy S.P., et al. Of membrane stability and mosaics: the spectrin cytoskeleton. Handbook of physiology 1997, 485-540. Oxford, London. J. Hoffman, J. Jamieson (Eds.).
57. Coetzer T., Lawler J., Prchal J.T., et al. Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis. Blood 1987, 70:766-772.
58. Coetzer T., Palek J., Lawler J., et al. Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis. Blood 1990, 75:2235-2244.
59. Gallagher P.G. Red cell membrane disorders. Hematology Am Soc Hematol Educ Program 2005, 13-18.
60. Coetzer T.L., Palek J. Partial spectrin deficiency in hereditary pyropoikilocytosis. Blood 1986, 67:919-924.
61. King M.J., Jepson M.A., Guest A., et al. Detection of hereditary pyropoikilocytosis by the eosin-5-maleimide (EMA)-binding test is attributable to a marked reduction in EMA-reactive transmembrane proteins. Int J Lab Hematol 2011, 33:205-211.