Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 31, 2007 - Issue 2
378
Views
41
CrossRef citations to date
0
Altmetric
Second Titus H.J. Huisman Memorial Symposium: Recent Advances in Hemoglobinopathy, May 8–9, 2006, Adana, Turkey

Sickle Cell Disease: A Multigenic Perspective of a Single Gene Disorder

Pages 209-224 | Published online: 07 Jul 2009

REFERENCES

  • Steinberg MH, Rodgers GP. Pathophysiology of sickle cell disease: role of cellular and genetic modifiers. Semin Hematol 2001; 38(4)299–306
  • Hebbel RP, Vercellotti GM. The endothelial biology of sickle cell disease. J Lab Clin Med 1997; 129(3)288–293
  • Rother RP, Bell L, Hillmen P, Gladwin MT. The clinical sequelae of intravascular hemolysis and extracellular plasma hemoglobin: a novel mechanism of human disease. JAMA 2005; 293(13)1653–1662
  • Charache S, Terrin ML, Moore RD, Dover GJ, Barton FB, Eckert SV, McMahon RP, Bonds DR. Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. Investigators of the Multicenter Study of Hydroxyurea in Sickle Cell Anemia. N Eng J Med 1995; 332(20)1317–1322
  • Steinberg MH. Predicting clinical severity in sickle cell anaemia. Br J Haematol 2005; 129(4)465–481
  • Close J, Game L, Clark B, Bergounioux J, Gerovassili A, Thein SL. Genome annotation of a 1‐5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults. BMC Genomics 2004; 5(1)33
  • Garner CP, Tatu T, Best S, Creary L, Thein SL. Evidence of genetic interaction between the β-globin complex and chromosome 8q in the expression of fetal hemoglobin. Am J Hum Genet 2002; 70(3)793–799
  • Garner C, Silver N, Best S, Menzel S, Martin C, Spector TD, Thein SL. Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin. Blood 2004; 104(7)2184–2186
  • Wyszynski DF, Baldwin CT, Cleves MA, Amirault Y, Nolan VG, Farrell JJ, Bisbee A, Kutlar A, Farrer LA, Steinberg MH. Polymorphisms near a chromosome 6q QTL area are associated with modulation of fetal hemoglobin levels in sickle cell anemia. Cell Mol Biol 2004; 50(1)23–33
  • Wyszynski DF, Baldwin CT, Cleves MA, Farrell JJ, Bisbee A, Kutlar A, Farrer LA, Steinberg MH. Genetic polymorphisms associated with fetal hemoglobin response to hydroxyurea in patients with sickle cell anemia. Blood 2004; 104(Suppl)34a
  • Ohene-Frempong K, Weiner SJ, Sleeper LA, Miller ST, Embury S, Moohr JW, Wethers DL, Pegelow CH, Gill FM. Cerebrovascular accidents in sickle cell disease: rates and risk factors. Blood 1998; 91(1)288–294
  • Adams RJ, McKie VC, Hsu L, Files B, Vichinsky E, Pegelow C, Abboud M, Gallgher D, Kutlar A, Nichols FT, Bonds DR, Brambilla D. Prevention of a first stroke by transfusion in children with sickle cell anemia and abnormal results on transcranial Doppler ultrasonography. N Engl J Med 1998; 339(1)5–11
  • Driscoll MC, Hurlet A, Styles L, McKie V, Files B, Olivieri N, Pegelow C, Berman B, Drachman D, Patel K, Brambilla D. Stroke risk in siblings with sickle cell anemia. Blood 2003; 101(6)2401–2404
  • Hoppe C, Klitz W, Noble J, Vigil L, Vichinsky E, Styles L. Distinct HLA associations by stroke subtype in children with sickle cell anemia. Blood 2003; 101(7)2865–2869
  • Hoppe C, Klitz W, Cheng S, Apple R, Steiner L, Robles L, Girard T, Vichinsky E, Styles L. Gene interactions and stroke risk in children with sickle cell anemia. Blood 2004; 103(6)2391–2396
  • Taylor JG, 6th, Tang DG, Savage SA, Leitman SF, Heller SI, Serjeant GR, Rodgers GP, Chanock SJ. Variants in the VCAM1 gene and risk for symptomatic stroke in sickle cell disease. Blood 2002; 100(13)4303–4309
  • Steinberg MH, Baldwin CT, Wyszynski DF, Nolan VG, Amirault Y, Farrell JJ, Bisbee A, Gavras H, Farrer LA, Adams R, Gallagher DM, Iyer R, Bidgelow C. Stroke in sickle cell anemia: association with single nucleotide polymorphisms in genes affecting vascular function. Blood 2003; 102(Suppl)406a
  • Sebastinani P, Ramoni MF, Nolan V, Baldwin CT, Steinberg MH. Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia. Nat Genet 2005; 37(4)435–440
  • Milner PF, Kraus AP, Sebes JI, Sleeper LA, Dukes KA, Embury SH, Bellevue R, Koshy M, Mohr JW, Smith J. Sickle cell disease as a cause of osteonecrosis of the femoral head. N Eng J Med 1991; 325(21)1476–1481
  • Kutlar A, Kutlar F, Turker I, Tural C. The methylene tetrahydrofolate reductase (C677T) mutation as a potential risk factor for avascular necrosis in sickle cell disease. Hemoglobin 2001; 25(2)213–217
  • Adekile AD, Kutlar F, Haider MZ, Kutlar A. Frequency of the 677C→T mutation of the methylenetetrahydrofolate reductase gene among Kuwaiti sickle cell disease patients. Am J Hematol 2001; 66(4)263–255
  • Zimmerman SA, Ware RE. Inherited DNA mutations contributing to thrombotic complications in patients with sickle cell disease. Am J Hematol 1998; 59(4)267–272
  • Andrade FL, Annichino-Bizzacchi JM, Saad STO, Costa FF, Arruda VR. Prothrombin mutant, Factor V Leiden, and thermolabile variant of methylenetetrahydrofolate reductase among patients withe sickle cell disease in Brazil. Am J Hematol 1998; 59(1)46–50
  • De Castro L, Rinder HM, Howe JG, Smith BR. Thrombophilic genotypes do not adversely affect the course of sickle cell disease (SCD). Blood 1998; 92(Suppl)161a
  • Baldwin C, Nolan VG, Wyszynski DF, Ma QL, Sebastiani P, Embury SH, Bisbee A, Farrell J, Farrer L, Steinberg MH. Association of klotho, bone morphogenic protein 5, and annexin A2 polymorphisms with sickle cell osteonecrosis. Blood 2005; 106(1)372–375
  • Gandrille S, Greengard JS, Alhenc-Gelas M, Juhan-Vague I, Abgrall JF, Jude B, Griffin JH, Aiach M. Incidence of activated protein C resistance caused by the ARG 5065 GLN mutation in Factor V in 113 unrelated symptmatic protein C-deficient patients. Blood 1995; 86(1)219–224
  • Le W, Yu JD, Tao R, You B, Cai X, Cao JB, Huang W, He RM, Zhu DL, Chen Z, Gong LS. Association of the R485K polymorphism of the Factor V gene with poor response to activated protein C and increased risk of coronary artery disease in the Chinese population. Clin Genet 2000; 57(4)296–303
  • Ustun C, Adams GT, Kutlar F, Elam D, Clair B, Daitch L, Falls G, Kutlar A. Factor V R485K polymorphism is a risk factor for catheter induced thrombosis in sickle cell disease. 30th Anniversary of the National Sickle Cell Disease Program and the Sickle Cell Disease Association of America, Washington, DC, September, 17–212002
  • Sampietro M, Lipica L, Perrero L, Comino A, Martinez de Montemuros F, Cappellini MD, Fiorelli G. The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous β-thalassaemia and in glucose-6-phosphate dehydrogenase deficiency. Br J Haematol 1997; 99(2)437–439
  • McKie K, Kutlar F, Sromek E, Litaker M, Woods KF, Kutlar A. Uridine diphosphate glucuronosyl transferase-1 (UGT1A1) promoter polymorphism and bilirubin levels in patients with sickle cell disease. Blood 1999; 94(Suppl 1)197a
  • Passon RG, Howard TA, Zimmerman SA, Schultz WH, Ware RE. Influence of bilirubin uridine diphosphate-glucuronosyltransferase 1A promoter polymorphism on serum bilirubin levels and cholelithiasis in children with sickle cell anemia. J Pediatr Hematol/Oncol 2001; 23(7)448–451
  • Haverfield EV, McKenzie CA, Forrester T, Bouzekri N, Harding R, Serjeant G, Walker T, Peto TE, Ward R, Weatherall DJ. UGT1A1 variations and gallstone formation in sickle cell disease. Blood 2004; 105(3)968–972
  • Fertrin KY, Melo MB, Assist AM, Saad ST, Costa FF. UDP-Glucuronosyltransferase 1 gene promoter polymorphism is associated with increased serum bilirubin levesl and cholecystectomy in patients with sickle cell anemia. Clin Genet 2003; 64(2)160–162
  • Adekile A, Kutlar F, McKie K, Addington A, Elam D, Holle L, Clair B, Kutlar A. The influence of uridine diphosphate glucuronosyl transferase 1A promoter polymorphisms, βS-globin gene haplotype, co-inherited α-thalassemia trait and Hb F on steady-state serum bilirubin levels in sickle cell anemia. Eur J Haematol 2005; 75(2)150–155
  • Henney MW, Howard TA, Zimmerman SA, Ware RE. UGT1A promoter polymorphism influence bilirubin response to hydroxyurea therapy in sickle cell anemia. J Lab Clin Med 2003; 141(4)279–282
  • Sharan K, Surrey S, Ballas S, Borowski M, Devoto M, Wang KF, Sandler E, Keller M. Association of T–786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease. Br J Haematol 2004; 124(2)240–243
  • Ashley-Koch A, DeCastro L, Lennon-Graham F, Jonassaint J, Jackson TL, Price J, Galloway J, Ataga K, Orringer EP, Vance JM, Telen MJ. Genetic polymorphisms associated with the risk of pulmonary hypertension and proteinuria in sickle cell disease. Blood 2004; 104(Suppl)464a
  • Nolan VG, Baldwin CT, Ma QL, Wyszynski DF, Amirault Y, Farrell JJ, Bisbee A, Embury SH, Farrer LA, Steinberg MH. Association of single nucleotide polymorphisms in klotho with priapism in sickle cell anemia. Br J Haematol 2004; 128(2)266–272
  • Ashley-Koch AE, De Castro L, Lennon-Graham F, Jonassaint J, Jackson TL, Price J, Galloway J, Jones S, Randall E, Eckman J, Orringer EP, Vance JM, Telen MJ. Clinical and genetic profiles of the aging sickle cell patient. Abstract presented at the 28th Annual Meeting of the National Sickle Cell Disease Program, Cincinnati, OH, April, 9–132005
  • Nagel RL, Fabry ME, Kaul DK, Rybicki AC. Up-regulation of gene expressioin in the chronically damaged kidney in sickle transgenic mice. Blood 2002; 100(Suppl)663a
  • Adwoye A, Safaya S, Frampton G, Lenburg M, Klings ES, Odhiambo A, Li G, Gerry n, Farber HW, Steinberg MH. Pulmonary artery endothelial cells exposed to acute chest syndrome plasma express a novel repertoire of genes. Blood 2002; 100(Suppl)453a
  • Klings ES, Safaya S, Adewoye AH, Odhiambo A, Frampton G, Lenburg M, Gerry N, Sebastiani P, Steinberg MH, Farber HW. Differential gene expression in pulmonary artery endothelial cells exposed to sickle cell plasma. Physiol Genomics 2005; 21(3)293–298
  • Kutlar A, Kutlar F, Clair B, Nechtman J, Joshi RM, Daitch L. Gene expression profiling of peripheral blood cells from sickle cell patients with differing crisis rates. Blood 2002; 100(Suppl)24b
  • Jison ML, Munson PJ, Barb JJ, Suffredini AF, Talwar S, Locun C, Raghavachari N, Beigel JH, Shelhamer JH, Danner RL, Gladwin MT. Blood mononuclear cell gene expression profiles characterize the oxidant, hemolytic, and inflammatory stress of sickle cell disease. Blood 2004; 104(1)270–280

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.