Sickle Cell Disease: Old Discoveries, New Concepts, and Future Promise

Overview

Journal J Clin Invest

Specialty General Medicine

Date 2007 Apr 4

PMID 17404610

Citations 138

Authors

Paul S Frenette

George F Atweh

Affiliations

Soon will be listed here.

Abstract

The discovery of the molecular basis of sickle cell disease was an important landmark in molecular medicine. The modern tools of molecular and cellular biology have refined our understanding of its pathophysiology and facilitated the development of new therapies. In this review, we discuss some of the important advances in this field and the impediments that limit the impact of these advances.

Citing Articles

Zinc finger nuclease-mediated gene editing in hematopoietic stem cells results in reactivation of fetal hemoglobin in sickle cell disease.

Lessard S, Rimmele P, Ling H, Moran K, Vieira B, Lin Y Sci Rep. 2024; 14(1):24298.

PMID: 39414860 PMC: 11484757. DOI: 10.1038/s41598-024-74716-7.

Gene-environmental influence of space and microgravity on red blood cells with sickle cell disease.

Igbineweka N, van Loon J NPJ Genom Med. 2024; 9(1):44.

PMID: 39349487 PMC: 11442622. DOI: 10.1038/s41525-024-00427-7.

Pain sensitisation in patients with sickle cell disease: A preliminary study.

Garcia-Hernandez A, de la Coba P, Martinez-Triana R, Reyes del Paso G J Eval Clin Pract. 2024; 31(1):e14101.

PMID: 39023328 PMC: 11664496. DOI: 10.1111/jep.14101.

Factors That Contribute to the Mental Health of Black Youth during COVID-19 Pandemic.

Salami B, Maduforo A, Aiello O, Osman S, Omobhude O, Price K Healthcare (Basel). 2024; 12(12).

PMID: 38921289 PMC: 11203374. DOI: 10.3390/healthcare12121174.

Inheritance of Hb S and G6PD deficiency in a familiar group.

Domingos C, Rios J, Orlandini L, Pereira L Arch Med Sci. 2024; 20(2):704-707.

PMID: 38757016 PMC: 11094812. DOI: 10.5114/aoms/185325.

References

Natarajan M, Udden M, McIntire L . Adhesion of sickle red blood cells and damage to interleukin-1 beta stimulated endothelial cells under flow in vitro. Blood. 1996; 87(11):4845-52. View

Dover G, Smith K, Chang Y, Purvis S, Mays A, Meyers D . Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2. Blood. 1992; 80(3):816-24. View

Mavilio F, Giampaolo A, Care A, Migliaccio G, Calandrini M, Russo G . Molecular mechanisms of human hemoglobin switching: selective undermethylation and expression of globin genes in embryonic, fetal, and adult erythroblasts. Proc Natl Acad Sci U S A. 1983; 80(22):6907-11. PMC: 390095. DOI: 10.1073/pnas.80.22.6907. View

Iannone R, Casella J, Fuchs E, Chen A, Jones R, Woolfrey A . Results of minimally toxic nonmyeloablative transplantation in patients with sickle cell anemia and beta-thalassemia. Biol Blood Marrow Transplant. 2003; 9(8):519-28. DOI: 10.1016/s1083-8791(03)00192-7. View

Hankins J, Ware R, Rogers Z, Wynn L, Lane P, Scott J . Long-term hydroxyurea therapy for infants with sickle cell anemia: the HUSOFT extension study. Blood. 2005; 106(7):2269-75. PMC: 1895275. DOI: 10.1182/Blood-2004-12-4973. View

Ley T, DESIMONE J, Noguchi C, Turner P, Schechter A, Heller P . 5-Azacytidine increases gamma-globin synthesis and reduces the proportion of dense cells in patients with sickle cell anemia. Blood. 1983; 62(2):370-80. View

Thevenin B, Crandall I, Ballas S, Sherman I, SHOHET S . Band 3 peptides block the adherence of sickle cells to endothelial cells in vitro. Blood. 1997; 90(10):4172-9. View

Bridges K, Barabino G, Brugnara C, Cho M, Christoph G, Dover G . A multiparameter analysis of sickle erythrocytes in patients undergoing hydroxyurea therapy. Blood. 1996; 88(12):4701-10. View

Sadelain M . Recent advances in globin gene transfer for the treatment of beta-thalassemia and sickle cell anemia. Curr Opin Hematol. 2006; 13(3):142-8. DOI: 10.1097/01.moh.0000219658.57915.d4. View

10.

Miller S, Sleeper L, Pegelow C, Enos L, Wang W, Weiner S . Prediction of adverse outcomes in children with sickle cell disease. N Engl J Med. 2000; 342(2):83-9. DOI: 10.1056/NEJM200001133420203. View

11.

Wick T, Moake J, Udden M, Eskin S, Sears D, McIntire L . Unusually large von Willebrand factor multimers increase adhesion of sickle erythrocytes to human endothelial cells under controlled flow. J Clin Invest. 1987; 80(3):905-10. PMC: 442320. DOI: 10.1172/JCI113151. View

12.

Hoover R, Rubin R, Wise G, Warren R . Adhesion of normal and sickle erythrocytes to endothelial monolayer cultures. Blood. 1979; 54(4):872-6. View

13.

Reiter C, Wang X, Tanus-Santos J, Hogg N, Cannon 3rd R, Schechter A . Cell-free hemoglobin limits nitric oxide bioavailability in sickle-cell disease. Nat Med. 2002; 8(12):1383-9. DOI: 10.1038/nm1202-799. View

14.

PERRINE R, Pembrey M, John P, Perrine S, Shoup F . Natural history of sickle cell anemia in Saudi Arabs. A study of 270 subjects. Ann Intern Med. 1978; 88(1):1-6. DOI: 10.7326/0003-4819-88-1-1. View

15.

Neel J . The Inheritance of Sickle Cell Anemia. Science. 1949; 110(2846):64-6. DOI: 10.1126/science.110.2846.64. View

16.

Zumberg M, Reddy S, Boyette R, Schwartz R, Konrad T, Lottenberg R . Hydroxyurea therapy for sickle cell disease in community-based practices: a survey of Florida and North Carolina hematologists/oncologists. Am J Hematol. 2005; 79(2):107-13. DOI: 10.1002/ajh.20353. View

17.

cokic V, Smith R, Beleslin-Cokic B, Njoroge J, Miller J, Gladwin M . Hydroxyurea induces fetal hemoglobin by the nitric oxide-dependent activation of soluble guanylyl cyclase. J Clin Invest. 2003; 111(2):231-9. PMC: 151872. DOI: 10.1172/JCI16672. View

18.

Letvin N, Linch D, Beardsley G, McIntyre K, Nathan D . Augmentation of fetal-hemoglobin production in anemic monkeys by hydroxyurea. N Engl J Med. 1984; 310(14):869-73. DOI: 10.1056/NEJM198404053101401. View

19.

Embury S, Matsui N, Ramanujam S, Mayadas T, Noguchi C, Diwan B . The contribution of endothelial cell P-selectin to the microvascular flow of mouse sickle erythrocytes in vivo. Blood. 2004; 104(10):3378-85. DOI: 10.1182/blood-2004-02-0713. View

20.

Kinney T, HELMS R, Obranski E, Ohene-Frempong K, Wang W, Daeschner C . Safety of hydroxyurea in children with sickle cell anemia: results of the HUG-KIDS study, a phase I/II trial. Pediatric Hydroxyurea Group. Blood. 1999; 94(5):1550-4. View