Beyond the Definitions of the Phenotypic Complications of Sickle Cell Disease: An Update on Management
The sickle hemoglobin is an abnormal hemoglobin due to point mutation (GAG → GTG) in exon 1 of the β globin gene resulting in the substitution of glutamic acid by valine at position 6 of the β globin polypeptide chain. Although the molecular lesion is a single-point mutation, the sickle gene is plei...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | The Scientific World Journal |
| Online Access: | http://dx.doi.org/10.1100/2012/949535 |
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| author | Samir K. Ballas Muge R. Kesen Morton F. Goldberg Gerard A. Lutty Carlton Dampier Ifeyinwa Osunkwo Winfred C. Wang Carolyn Hoppe Ward Hagar Deepika S. Darbari Punam Malik |
| author_facet | Samir K. Ballas Muge R. Kesen Morton F. Goldberg Gerard A. Lutty Carlton Dampier Ifeyinwa Osunkwo Winfred C. Wang Carolyn Hoppe Ward Hagar Deepika S. Darbari Punam Malik |
| author_sort | Samir K. Ballas |
| collection | DOAJ |
| description | The sickle hemoglobin is an abnormal hemoglobin due to point mutation (GAG → GTG) in exon 1 of the β globin gene resulting in the substitution of glutamic acid by valine at position 6 of the β globin polypeptide chain. Although the molecular lesion is a single-point mutation, the sickle gene is pleiotropic in nature causing multiple phenotypic expressions that constitute the various complications of sickle cell disease in general and sickle cell anemia in particular. The disease itself is chronic in nature but many of its complications are acute such as the recurrent acute painful crises (its hallmark), acute chest syndrome, and priapism. These complications vary considerably among patients, in the same patient with time, among countries and with age and sex. To date, there is no well-established consensus among providers on the management of the complications of sickle cell disease due in part to lack of evidence and in part to differences in the experience of providers. It is the aim of this paper to review available current approaches to manage the major complications of sickle cell disease. We hope that this will establish another preliminary forum among providers that may eventually lead the way to better outcomes. |
| format | Article |
| id | doaj-art-df632fd7aa014af895eb7bc31341028a |
| institution | Kabale University |
| issn | 1537-744X |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | The Scientific World Journal |
| spelling | doaj-art-df632fd7aa014af895eb7bc31341028a2025-02-03T01:20:16ZengWileyThe Scientific World Journal1537-744X2012-01-01201210.1100/2012/949535949535Beyond the Definitions of the Phenotypic Complications of Sickle Cell Disease: An Update on ManagementSamir K. Ballas0Muge R. Kesen1Morton F. Goldberg2Gerard A. Lutty3Carlton Dampier4Ifeyinwa Osunkwo5Winfred C. Wang6Carolyn Hoppe7Ward Hagar8Deepika S. Darbari9Punam Malik10Cardeza Foundation and Department of Medicine, Thomas Jefferson University, 1015 Walnut Street, Philadelphia, PA 19107, USAWilmer Ophthalmological Institute, Johns Hopkins Hospital, 400 North Broadway, Baltimore, MD 21267, USAWilmer Ophthalmological Institute, Johns Hopkins Hospital, 400 North Broadway, Baltimore, MD 21267, USAWilmer Ophthalmological Institute, Johns Hopkins Hospital, 400 North Broadway, Baltimore, MD 21267, USADepartment of Pediatrics, Aflac Cancer Center and Blood Disorders Service, Children’s Healthcare of Atlanta, Emory University School of Medicine, Atlanta, GA 30322, USADepartment of Pediatrics, Aflac Cancer Center and Blood Disorders Service, Children’s Healthcare of Atlanta, Emory University School of Medicine, Atlanta, GA 30322, USADepartment of Hematology, St. Jude Children’s Research Hospital, Memphis, TN 38105, USAChildren’s Hospital & Research Center at Oakland, 744 52nd Street, Oakland, CA 94609, USAChildren’s Hospital & Research Center at Oakland, 744 52nd Street, Oakland, CA 94609, USADivision of Hematology, Children’s National Medical Center, 111 Michigan Avenue, N.W., Washington, DC 20010, USACincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USAThe sickle hemoglobin is an abnormal hemoglobin due to point mutation (GAG → GTG) in exon 1 of the β globin gene resulting in the substitution of glutamic acid by valine at position 6 of the β globin polypeptide chain. Although the molecular lesion is a single-point mutation, the sickle gene is pleiotropic in nature causing multiple phenotypic expressions that constitute the various complications of sickle cell disease in general and sickle cell anemia in particular. The disease itself is chronic in nature but many of its complications are acute such as the recurrent acute painful crises (its hallmark), acute chest syndrome, and priapism. These complications vary considerably among patients, in the same patient with time, among countries and with age and sex. To date, there is no well-established consensus among providers on the management of the complications of sickle cell disease due in part to lack of evidence and in part to differences in the experience of providers. It is the aim of this paper to review available current approaches to manage the major complications of sickle cell disease. We hope that this will establish another preliminary forum among providers that may eventually lead the way to better outcomes.http://dx.doi.org/10.1100/2012/949535 |
| spellingShingle | Samir K. Ballas Muge R. Kesen Morton F. Goldberg Gerard A. Lutty Carlton Dampier Ifeyinwa Osunkwo Winfred C. Wang Carolyn Hoppe Ward Hagar Deepika S. Darbari Punam Malik Beyond the Definitions of the Phenotypic Complications of Sickle Cell Disease: An Update on Management The Scientific World Journal |
| title | Beyond the Definitions of the Phenotypic Complications of Sickle Cell Disease: An Update on Management |
| title_full | Beyond the Definitions of the Phenotypic Complications of Sickle Cell Disease: An Update on Management |
| title_fullStr | Beyond the Definitions of the Phenotypic Complications of Sickle Cell Disease: An Update on Management |
| title_full_unstemmed | Beyond the Definitions of the Phenotypic Complications of Sickle Cell Disease: An Update on Management |
| title_short | Beyond the Definitions of the Phenotypic Complications of Sickle Cell Disease: An Update on Management |
| title_sort | beyond the definitions of the phenotypic complications of sickle cell disease an update on management |
| url | http://dx.doi.org/10.1100/2012/949535 |
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