Sickle cell disease - Pathophysiology, clinical and diagnostic implications

Clinical Chemistry and Laboratory Medicine

Volumn 40, Issue 11, 2002, Pages 1075-1084

  Dorn Beineke, Alexandra ^a   Frietsch, Thomas ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Hemoglobin S.; Sickle cell anemia; Sickle cell disease; Sickle cell trait

Indexed keywords

HEMOGLOBIN S;

BLOOD CELL COUNT; BLOOD SMEAR; CLINICAL FEATURE; DIAGNOSTIC APPROACH ROUTE; DISEASE SEVERITY; ELECTROPHORESIS; FAST PROTEIN LIQUID CHROMATOGRAPHY; HEMOGLOBIN DETERMINATION; HEMOLYSIS; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; ISOELECTRIC FOCUSING; LABORATORY DIAGNOSIS; NEWBORN; PATHOPHYSIOLOGY; PHYSICAL RESISTANCE; PRIORITY JOURNAL; REVIEW; SICKLE CELL ANEMIA; SYMPTOMATOLOGY;

ANEMIA, SICKLE CELL; ERYTHROCYTE MEMBRANE; ERYTHROCYTES, ABNORMAL; HEMOGLOBIN, SICKLE; HEMOLYSIS; HUMANS;

EID: 0036910744     PISSN: 14346621     EISSN: None     Source Type: Journal    
DOI: 10.1515/CCLM.2002.189     Document Type: Review

References (76)

1. Huisman THJ, Carver A, Efremov GD, editors. A syllabus of human hemoglobin variants, 2nd ed. Augusta, GA, USA: Sickle Cell Anemia Foundation, MCG, 1998.
2. Herrick JB. Peculiar elongated and sickle shaped red corpuscles in a case of severe anemia. Arch Intern Med 1910; 6:517-21.
3. Pauling L, Itano HA, Singer SJ, Wells IC. Sickle cell anemia: a molecular disease. Science 1949; 110:543-8.
4. Friedman MJ. Erythrocytic mechanism of sickle cell resistance to malaria. Proc Natl Acad Sci USA 1978; 75:1994-7.
5. Roth EF, Friedman M, Zueda Y, Tellez I, Trager W, Nagel RL. Sickling rates of human AS red cells infected in vitro with Plasmodium falciparum malaria. Science 1978; 202:650-2.
6. Aidoo M, Terlouw DJ, Kolczak MS, McElroy PD, ter Kuile FO, Kariuki S, et al. Protective effects of the sickle cell gene against malaria morbidity and mortality. Lancet 2002; 359:1311-2.
7. Wiesenfeld SL. Sickle-cell trait in human cultural and biological evolution. Science 1967; 157:1134-40.
8. Kleihauer E, Kohne E, Kulozik AE, editors. Anomale Hämo-globine und Thalassämiesyndrome, 1st ed. Landsberg: Ecomed, 1996:77-119.
9. Honig GR, Adams JG, editors. III: Human hemoglobin genetics, 1st ed. Springer: Wien, NewYork, 1986.
10. Chebloune Y, Pagnier J, Trabuchet G, Faure C, Verdier G, Labie D, et al. Structural analysis of the 5′ -flanking region of the β-globin gene in African sickle cell anemia patients: further evidence for three origins of the sickle cell mutation in Africa. Proc Natl Acad Sci USA 1988; 85:4431-5.
11. s-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation. Am J Hum Genet 1986; 39:239-44.
12. Serjeant GR. Geography and the clinical picture of sickle cell disease. An overview. Ann NY Acad Sci 1989; 565: 109-19.
13. Ferrone FA, Hofrichter J, Eaton WA. Kinetics of sickle hemoglobin polymerization: II. A double nucleation mechanism. J Mol Biol 1985; 183:611-31.
14. Asakura T, Mattiello JA, Obata K, Asakura K, Reilly M, Tomassini N, et al. Partially oxygenated sickle cells: sickle-shaped red cells found in circulating blood of patients with sickle cell disease. Proc Natl Acad Sci USA 1994; 91: 12589-93.
15. Hiruma H, Noguchi CT, Uyesaka N, Schlechter AN, Rodgers GP. Contributions of sickle hemoglobin polymer and sickle cell membranes to impaired filterability. Am J Hematol 1995; 268(5 Pt 2):2003-8.
16. Ware RE, Eggleston B, Redding-Lallinger R, Wang WC, Smith-Whitley K, Daeschner C, etal. Predictors of fetal hemoglobin response in children with sickle cell anemia receiving hydroxyurea therapy. Blood 2002; 99:10-4.
17. Kasschau MR, Barabino GA, Bridges KR, Golan DE. Adhesion of sickle neutrophils and erythrocytes to fibronectin. Blood 1996; 87:771-80.
18. Bridges KR, Barabino GD, Brugnara C, Cho MR, Christoph GW, Dover G, et al. A multiparameter analysis of sickle erythrocytes in patients undergoing hydroxyurea therapy. Blood 1996; 88:4701-10.
19. Schwarz RS, Musto S, Fabry ME, Nagel RL. Two distinct pathways mediate the formation of intermediate density cells and hyperdense cells from normal density sickle red blood cells. Blood 1998; 92:4844-55.
20. Bunn HF. Pathogenesis and treatment of sickle cell disease. N Engl J Med 1997; 337:762-9.
21. Kuross SE, Hebbel RP. Nonheme iron in sickle erythrocyte membranes: association with phospholipids, and potential role in lipid peroxidation. Blood 1988; 72:1278-85.
22. Corbett JD, Golan DE. Band 3 and glycophorin are progressively aggregated in density-fractionated sickle and normal red blood cells. Evidence from rotational and lateral mobility studies. J Clin Invest 1993; 91:208-17.
23. Platt OS, Falcone JF. Membrane protein interactions in sickle red cells: evidence of abnormal protein 3 function. Blood 1995; 85:1992-8.
24. Wun T, Cordoba M, Rangaswami A, Cheung AW, Paglieroni T. Activated monocytes aggregates in patients with sickle cell disease. Clin Lab Haematol 2002; 24:81-8.
25. Montes RA, Eckman JR, Hsu LL, Wick TM. Sickle erythrocyte adherence to enclothelium at low shear: role of shear stress in propagation of vaso-occlusion. Am J Hematol 2002; 70:216-27.
26. Frietsch T, Ewen I, Waschke KF. Anaesthetic care for sickle cell disease. Eur J Anaesthesiol 2001; 18:137-50.
27. Franklin QJ, Compeggie M. Splenic syndrome in sickle cell trait: four case presentation and a review of the literature. Mil Med 1999; 164:230-3.
28. Tiernan CJ. Splenic crisis at high altitude in 2 white men with sickle cell trait. Ann Emerg Med 1999; 33:230-33.
29. Balgir RS, Dash BP, Das RK. Fetal outcome and childhood mortality in offspring of mothers with sickle cell trait and disease. Indian J Pediatr 1997; 64:79-84.
30. Wirthwein DP, Spotswood SD, Barnard JJ, Prahlow JA. Death due to microvascular occlusion in sickle cell trait following physical exertion. J Forensic Sci 2001; 46:399-401.
31. Smith BD, La Celle PL. Erythrocyte-enclothelial cell adherence in sickle cell disorders. Blood 1986; 68:1050-4.
32. Castro O, Brambilla DJ, Thorington B, Reindorf CA, Scott RB, Gilette R et al. The acute chest syndrome in sickle cell disease: incidence and risk factors. The cooperative study of sickle cell disease. Blood 1994; 84:643-9.
33. Walker TM, Hambleton IR, Serjeant GR. Gallstones in sickle cell disease: observation from the Jamaican cohort study. J Pediatr 2000; 136:80-5.
34. Mukisi-Mukasa M, Elbaz A, Samuel-Leborgne Y, Keclard L, Le Turdu-Chicot C, Christophe-Duchange E, et al. Prevalence, clinical features, and risk factors of osteonecrosis of the femoral head among adults with sickle cell disease. Orthopedics 2000; 23:357-63.
35. Powars DR. Sickle cell anemia and major organ failure. Hemoglobin 1990; 14:573-98.
36. Balkaran B, Char G, Morris JS, Thomas PW, Serjeant BE, Serjeant GR. Stroke in a cohort of patients with homozygous sickle cell disease. J Pediatr 1992; 120:360-6.
37. Warandy BA, Sullivan EK. Renal transplantation in children with sickle cell disease: a report of the North American Pediatric Renal Transplant Cooperative Study (NAPRTCS). Pediatr Transplant 1998; 2:130-3.
38. Cackovic M, Chung C, Bolton LL, Kerstein MD. Leg ulceration in the sickle cell patient. J Am Coll Surg 1998; 187: 307-9.
39. Minter KR, Gladwin MT. Pulmonary complications of sickle cell anemia. A need for increased recognition, treatment, and research. Am J Respir Crit Car Med 2001; 164: 2016-9.
40. Pearson HA, Gallagher D, Chilcote R, Sullivan E, Wilimas J, Espeland M, et al. Developmental pattern of splenic dys-function in sickle cell disorders. Pediatrics 1985; 76:392-7.
41. Mehta JS, Whitaker KW, Tsaloumas MD. Latent proliferative sickle cell retinopathy in sickle cell trait. Acta Ophthalmol 12001; 79:81 -2.
42. Seeler RA. Death in children with sickle cell anemia. A clinical analysis of 19 fatal instances in Chicago. Clin Pediatr 1972; 11:634-7.
43. Gill FM, Sleeper LA, Weiner SJ, Brown AK, Bellevue R, Grover R, et al. Clinical events in the first decade in a cohort of infants with sickle cell disease. Cooperative study of sickle cell disease. Blood 1995; 86:776-83.
44. Watson RJ, Burko H, Megas H, Robinson M. The hand-foot syndrome in sickle-cell disease in young children. Pediatrics 1963; 45:975-82.
45. Platt OS, Brambilla DJ, Rosse WF, Milner PF, Castro O, Steinberg MH, etal. Mortality in sickle cell disease. Life expectancy and risk factors for early death. N Engl J Med 1994; 330:1639-44.
46. Embury SH. The interaction of alpha-thalassemia with sickle cell anemia. Hemoglobin 1988; 12:509-17.
47. Serjeant GR, Ashcroft MT, Serjeant BE. The clinical features of haemoglobin SC disease in Jamaica. Br J Haematol 1973; 24:491-501.
48. Ganesh A, Al-Habsi NS, Al-Alawi FK, Mitra S, Ericson A, Venugopalan P. Traumatic hyphaema and sickle cell retinopathy in a patient with sickle cell-hemoglobin E (HbSE) disease. Eye 2000; 14:397-400.
49. Schneider RG, Ueda S, Alperin JB, Levin WC, Jones RT, Brimhall B. Hemoglobin D Los Angeles in two Caucasian families: hemoglobin SD disease and hemoglobin D thalassemia. Blood 1968; 32:250-9.
50. Milner PF, Miller C, Grey R, Seakins M, DeJong WW, Went LN. Hemoglobin O Arab in four negro families and its interaction with hemoglobin S and hemoglobin C. N Engl J Med 1970; 283:1417-25.
51. Serjeant GR, Ashcroft MT, Serjeant BE, Milner PF. The clinical features of sickle-cell-thalassemia in Jamaica. Br J Haematol 1973; 24:19-30.
52. Dover JD, Platt OS. Sickle cell disease. In: Nathan DG, Orkin SH, editors. Hematology of infancy and childhood. Philadelphia: WB Saunders Company, 1998:762-809.
53. Dacie JV, Lewis SM, editors. Practical hematology. Edinburgh: Churchill Livingstone, 1984:179-99.
54. Schneider RG, Alperin JB, Lehmann H. Sickling tests: pit-falls in performance and interpretation. J Am Med Assoc 1967; 202:419-21.
55. Fairbanks VF, editor. Hemoglobinopathies and thalassemias. Laboratory methods and clinical cases, 1st ed. New York: Georg Thieme, 1980:105pp.
56. Greenberg MS, Harvey HA, Morgan C. A simple and inexpensive screening test for sickle hemoglobin. N Engl J Med 1972; 286:1143-4.
57. Joyner RE, Brooks MJ. Evaluation of the automated leukocyte count and differential from the CellDyn 3500 in sickle cell disease. Clin Chem Lab 1995; 17:329-33.
58. Evans EA, Mohandas N. Membrane-associated sickle hemoglobin: a major determinant of sickle erythrocyte rigidity. Blood 1987; 70:1443-9.
59. Fortier N, Snyder M, Garver F, Kiefer C, McKenney J, Mohandas N. The relationship between in vivo generated hemoglobin skeletal protein complex and increased red cell membrane rigidity. Blood 1988; 71:1427-31.
60. Eaton JW, Jacobs HS, White JG. Membrane abnormality of irreversible sickled cells. Semin Hematol 1979; 16: 52-64.
61. Briere RO, Golas T, Batsakis JG. Rapid qualitative and quantitative hemoglobin fractionation: cellulose acetate electrophoresis. Am J Clin Pathol 1965; 44:695-701.
62. Robinson AR, Robson M, Harrison AP, Zuelzer WW. A new technique for differentiation of hemoglobin. J Lab Clin Med 1957; 50:745-52.
63. Fairbanks VF, editor. Hemoglobinopathies and thalassemias. Laboratory methods and clinical cases, 1st ed. New York: Georg Thieme, 1980:124pp.
64. Kulozik AE. Hemoglobin variants and the rarer hemoglobin disorders. In: Lilleyman JS, Hann IM, Blanchette VS, editors. Pediatric hematology. Philadelphia: Churchill Livingstone, 1999:231-56.
65. Lafferty J. College of American Pathologists hemoglobinopathy survey HG-B 1999. Chicago, IL, College of American Pathologists..
66. Monte M, Beuzard Y, Rosa J. Mapping of several abnormal hemoglobins by horizontal polyacrylamicle gel isoelectric focusing. Am J Clin Pathol 1976; 66:753-9.
67. Sinha P, Galacteros F, Righetti PG, Kohlmeier M, Köttgen E. Analysis of hemoglobin variants using immobilized pH gradients. Eur J Clin Chem Clin Biochem 1993; 31:91-6.
68. Frietsch T, Segiet W, Schutz P, Haux P, Lorentz A. Perioperative monitoring of hemoglobin fractions in homozygous sickle cell disease. Anaesthesist 1999; 48:231-5.
69. 2 quantification by HPLC. Clin Chem 1996; 42:1113-4.
70. Posey YF, Shah D, Ulm JE, Bastin T, Parl FF, Phillips JA. Prenatal diagnosis of sickle cell anemia. Am J Clin Pathol 1989; 92:347-51.
71. Embury SH, Scharf SJ, Saiki RK, Gholson MA, Golbus M, Arnheim N, et al. Rapid prenatal diagnosis of sickle cell anemia by a new method of DNA analysis. N Engl J Med 1987; 316:656-61.
72. Reyes AA, Carrera P, Cardillo E, Ugozzoli L, Lowery JD, Lin CP, et al. Ligase chain reaction assay for human mutations: the sickle cell by LCR assay. Clin Chem 1997; 43:40-4.
73. Wood N, Standen G, Hows J, Bradley B, Bidwell J. Diagnosis of sickle-cell disease with a universal heteroduplex generator. Lancet 1993; 342:1519-20.
74. Cao A, Gallanello R, Rosatelli MC. Prenatal diagnosis and screening of the hemoglobinopathies. EJIFCC 1999; 3:1-11.
75. Powars D. Diagnosis at birth improves survival of children with sickle cell anemia. Pediatrics 1989; 83:830-3.
76. Sprinkle RH, Hynes DM, Konrad TR. Is universal neonatal hemoglobinopathy screening cost effective? Arch Pediatr Adolesc Med 1994; 148:461-9.