Sickle Cell Disease – Pathophysiology, Clinical and Diagnostic Implications

Abstract We review the current knowledge of the pathophysiology of sickle cell disease (SCD), the clinical complications and the state of the art in SCD diagnostics. Today, a flexible laboratory concept allows the fast and economic clarification of the patients' sickle cell hemoglobin (HbS) status, e.g. additional compound heterozygosities. In contrast to a well-investigated pathophysiology of the disease, factors influencing the severity of symptoms as well as some laboratory findings in SCD still lack a final explanation. In this review, we focus on red cell lysis resistance as an additional diagnostic tool in SCD. There is a need for further studies regarding lysis resistance in blood samples from patients with HbS.

[1]  Richard A.O. Montes,et al.  Sickle erythrocyte adherence to endothelium at low shear: Role of shear stress in propagation of vaso‐occlusion , 2002, American journal of hematology.

[2]  Dianne J Terlouw,et al.  Protective effects of the sickle cell gene against malaria morbidity and mortality , 2002, The Lancet.

[3]  T. Wun,et al.  Activated monocytes and platelet-monocyte aggregates in patients with sickle cell disease. , 2002, Clinical and laboratory haematology.

[4]  M. Gladwin,et al.  Pulmonary complications of sickle cell anemia. A need for increased recognition, treatment, and research. , 2001, American journal of respiratory and critical care medicine.

[5]  J. Barnard,et al.  Death due to microvascular occlusion in sickle-cell trait following physical exertion. , 2001, Journal of forensic sciences.

[6]  T. Frietsch,et al.  Anaesthetic care for sickle cell disease , 2001, European journal of anaesthesiology.

[7]  J. Mehta,et al.  Latent proliferative sickle cell retinopathy in sickle cell trait. , 2001, Acta ophthalmologica Scandinavica.

[8]  A. Ganesh,et al.  Traumatic hyphaema and sickle cell retinopathy in a patient with sickle cell-haemoglobin E (HbSE) disease , 2000, Eye.

[9]  A. Elbaz,et al.  Prevalence, clinical features, and risk factors of osteonecrosis of the femoral head among adults with sickle cell disease. , 2000, Orthopedics.

[10]  A. Lorentz,et al.  Perioperative Überwachung der Hämoglobinfraktionen bei homozygoter Sichelzellanämie , 1999, Der Anaesthesist.

[11]  M. Compeggie,et al.  Splenic syndrome in sickle cell trait: four case presentations and a review of the literature. , 1999, Military medicine.

[12]  C. Tiernan.  Splenic crisis at high altitude in 2 white men with sickle cell trait. , 1999, Annals of emergency medicine.

[13]  R. Nagel,et al.  Two distinct pathways mediate the formation of intermediate density cells and hyperdense cells from normal density sickle red blood cells. , 1998, Blood.

[14]  M. Kerstein,et al.  Leg ulceration in the sickle cell patient. , 1998, Journal of the American College of Surgeons.

[15]  E. Sullivan,et al.  Renal transplantation in children with sickle cell disease: a report of the North American Pediatric Renal Transplant Cooperative Study (NAPRTCS). , 1998, Pediatric transplantation.

[16]  H. Bunn.  Pathogenesis and treatment of sickle cell disease. , 1997, The New England journal of medicine.

[17]  J. Hofrichter,et al.  A multiparameter analysis of sickle erythrocytes in patients undergoing hydroxyurea therapy. , 1996, Blood.

[18]  K. Bures,et al.  Influence of hemoglobin S adducts on hemoglobin A2 quantification by HPLC. , 1996, Clinical chemistry.

[19]  D. Golan,et al.  Adhesion of sickle neutrophils and erythrocytes to fibronectin. , 1996, Blood.

[20]  O. Platt,et al.  Membrane protein interactions in sickle red blood cells: evidence of abnormal protein 3 function. , 1995, Blood.

[21]  C. Pegelow,et al.  Clinical events in the first decade in a cohort of infants with sickle cell disease. Cooperative Study of Sickle Cell Disease. , 1995, Blood.

[22]  J. Mattiello,et al.  Partially oxygenated sickled cells: sickle-shaped red cells found in circulating blood of patients with sickle cell disease. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[23]  O. Castro,et al.  The acute chest syndrome in sickle cell disease: incidence and risk factors. The Cooperative Study of Sickle Cell Disease. , 1994, Blood.

[24]  O. Platt,et al.  Mortality in sickle cell disease. Life expectancy and risk factors for early death. , 1994, The New England journal of medicine.

[25]  T. Konrad,et al.  Is universal neonatal hemoglobinopathy screening cost-effective? , 1994, Archives of pediatrics & adolescent medicine.

[26]  G. Standen,et al.  Diagnosis of sickle-cell disease with a universal heteroduplex generator , 1993, The Lancet.

[27]  J. Morris,et al.  Stroke in a cohort of patients with homozygous sickle cell disease. , 1992, The Journal of pediatrics.

[28]  F. Parl,et al.  Prenatal diagnosis of sickle cell anemia. Hemoglobin electrophoresis versus DNA analysis. , 1989, American journal of clinical pathology.

[29]  G. Serjeant.  Geography and the Clinical Picture of Sickle Cell Disease , 1989, Annals of the New York Academy of Sciences.

[30]  D. Powars.  Diagnosis at birth improves survival of children with sickle cell anemia. , 1989, Pediatrics.

[31]  R. Hebbel,et al.  Nonheme iron in sickle erythrocyte membranes: association with phospholipids and potential role in lipid peroxidation. , 1988, Blood.

[32]  N. Mohandas,et al.  The relationship between in vivo generated hemoglobin skeletal protein complex and increased red cell membrane rigidity. , 1988, Blood.

[33]  E. Evans,et al.  Membrane-associated sickle hemoglobin: a major determinant of sickle erythrocyte rigidity. , 1987, Blood.

[34]  H A Erlich,et al.  Rapid prenatal diagnosis of sickle cell anemia by a new method of DNA analysis. , 1987, The New England journal of medicine.

[35]  P. L. la Celle,et al.  Erythrocyte-endothelial cell adherence in sickle cell disorders. , 1986, Blood.

[36]  A. Kulozik,et al.  Geographical survey of beta S-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation. , 1986, American journal of human genetics.

[37]  M. Espeland,et al.  Developmental pattern of splenic dysfunction in sickle cell disorders. , 1985, Pediatrics.

[38]  J. Hofrichter,et al.  Kinetics of sickle hemoglobin polymerization. II. A double nucleation mechanism. , 1985, Journal of molecular biology.

[39]  R. Nagel,et al.  Sickling rates of human AS red cells infected in vitro with Plasmodium falciparum malaria. , 1978, Science.

[40]  M. Friedman.  Erythrocytic mechanism of sickle cell resistance to malaria. , 1978, Proceedings of the National Academy of Sciences of the United States of America.

[41]  Y. Beuzard,et al.  Mapping of several abnormal hemoglobins by horizontal polyacrylamide gel isoelectric focusing. , 1976, American journal of clinical pathology.

[42]  G. Serjeant,et al.  The Clinical Features of Haemoglobin SC Disease in Jamaica , 1973, British journal of haematology.

[43]  R. Seeler,et al.  Acute Splenic Sequestration Crises (ASSC) in Young Children with Sickle Cell Anemia , 1972, Clinical pediatrics.

[44]  M. Greenberg,et al.  A simple and inexpensive screening test for sickle hemoglobin. , 1972, The New England journal of medicine.

[45]  W. Dejong,et al.  Hemoglobin O arab in four negro families and its interaction with hemoglobin S and hemoglobin C. , 1970, The New England journal of medicine.

[46]  W. C. Levin,et al.  Hemoglobin D Los Angeles in two Caucasian families: hemoglobin SD disease and hemoglobin D thalassemia. , 1968, Blood.

[47]  R. Schneider,et al.  Sickling tests. Pitfalls in performance and interpretation. , 1967, JAMA.

[48]  S. Wiesenfeld.  Sickle-Cell Trait in Human Biological and Cultural Evolution , 1967, Science.

[49]  J. Batsakis,et al.  Rapid qualitative and quantitative hemoglobin fractionation. Cellulose acetate electrophoresis. , 1965, American journal of clinical pathology.

[50]  W. Zuelzer,et al.  A new technique for differentiation of hemoglobin. , 1957, The Journal of laboratory and clinical medicine.

[51]  L. Pauling,et al.  Sickle cell anemia a molecular disease. , 1949, Science.

[52]  J. Herrick.  Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia. , 1910, JAMA.

[53]  R. Ware,et al.  Predictors of fetal hemoglobin response in children with sickle cell anemia receiving hydroxyurea therapy. , 2002, Blood.

[54]  I. Hambleton,et al.  Gallstones in sickle cell disease: observations from The Jamaican Cohort study. , 2000, The Journal of pediatrics.

[55]  B. P. Dash,et al.  Fetal outcome and childhood mortality in offspring of mothers with sickle cell trait and disease , 1997, Indian journal of pediatrics.

[56]  L. Ugozzoli,et al.  Ligase chain reaction assay for human mutations: the Sickle Cell by LCR assay. , 1997, Clinical chemistry.

[57]  D. Golan,et al.  Band 3 and glycophorin are progressively aggregated in density-fractionated sickle and normal red blood cells. Evidence from rotational and lateral mobility studies. , 1993, The Journal of clinical investigation.

[58]  D. Powars.  Sickle cell anemia and major organ failure. , 1990, Hemoglobin.

[59]  S. Embury.  The interaction of alpha-thalassemia with sickle cell anemia. , 1988, Hemoglobin.

[60]  J. White,et al.  Membrane abnormalities of irreversibly sickled cells. , 1979, Seminars in hematology.

[61]  P. Milner,et al.  The clinical features of sickle-cell- thalassaemia in Jamaica. , 1973, British journal of haematology.

[62]  D. Labie,et al.  Structural analysis of the 5' flanking region of the j3-globin gene in African sickle cell anemia patients: Further evidence for three origins of the sickle cell mutation in Africa , 2022 .