Sickle Retinopathy in a Person with Hemoglobin S/New York Disease
A patient who presented with sickle retinopathy and hemoglobin electrophoresis results compatible with sickle cell trait was found, on further investigation, to be a compound heterozygote with hemoglobin S and hemoglobin New York disease. This recently reported form of sickle cell disease was not pr...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2012/136582 |
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| _version_ | 1850175653897306112 |
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| author | Donovan Calder Maryse Etienne-Julan Marc Romana Naomi Watkins Jennifer M. Knight-Madden |
| author_facet | Donovan Calder Maryse Etienne-Julan Marc Romana Naomi Watkins Jennifer M. Knight-Madden |
| author_sort | Donovan Calder |
| collection | DOAJ |
| description | A patient who presented with sickle retinopathy and hemoglobin electrophoresis results compatible with sickle cell trait was found, on further investigation, to be a compound heterozygote with hemoglobin S and hemoglobin New York disease. This recently reported form of sickle cell disease was not previously known to cause retinopathy and surprisingly was observed in a non-Asian individual. The ophthalmological findings, the laboratory diagnosis, and possible pathophysiology of this disorder are discussed. Persons diagnosed with sickle cell trait who present with symptoms of sickle cell disease may benefit from specific screening for this variant. |
| format | Article |
| id | doaj-art-ba0effb2f5ad4d1693c510b443ad8630 |
| institution | OA Journals |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-ba0effb2f5ad4d1693c510b443ad86302025-08-20T02:19:26ZengWileyCase Reports in Genetics2090-65442090-65522012-01-01201210.1155/2012/136582136582Sickle Retinopathy in a Person with Hemoglobin S/New York DiseaseDonovan Calder0Maryse Etienne-Julan1Marc Romana2Naomi Watkins3Jennifer M. Knight-Madden4Department of Surgery, Radiology, Anaesthetics, and Intensive Care, Faculty of Medical Sciences, University of the West Indies, Mona, Kingston 7, JamaicaUniversite des Antilles et de la Guyane, Centre Hospitalier Universitaire (CHU), Pointe-a-Pitre, UMR S 458 Inserm, 97159 Guadeloupe, FranceInserm U763, Pointe-à-Pitre, 97159 Guadeloupe, FranceSickle Cell Unit, Tropical Medicine Research Institute, University of the West Indies, Mona, Kingston 7, JamaicaSickle Cell Unit, Tropical Medicine Research Institute, University of the West Indies, Mona, Kingston 7, JamaicaA patient who presented with sickle retinopathy and hemoglobin electrophoresis results compatible with sickle cell trait was found, on further investigation, to be a compound heterozygote with hemoglobin S and hemoglobin New York disease. This recently reported form of sickle cell disease was not previously known to cause retinopathy and surprisingly was observed in a non-Asian individual. The ophthalmological findings, the laboratory diagnosis, and possible pathophysiology of this disorder are discussed. Persons diagnosed with sickle cell trait who present with symptoms of sickle cell disease may benefit from specific screening for this variant.http://dx.doi.org/10.1155/2012/136582 |
| spellingShingle | Donovan Calder Maryse Etienne-Julan Marc Romana Naomi Watkins Jennifer M. Knight-Madden Sickle Retinopathy in a Person with Hemoglobin S/New York Disease Case Reports in Genetics |
| title | Sickle Retinopathy in a Person with Hemoglobin S/New York Disease |
| title_full | Sickle Retinopathy in a Person with Hemoglobin S/New York Disease |
| title_fullStr | Sickle Retinopathy in a Person with Hemoglobin S/New York Disease |
| title_full_unstemmed | Sickle Retinopathy in a Person with Hemoglobin S/New York Disease |
| title_short | Sickle Retinopathy in a Person with Hemoglobin S/New York Disease |
| title_sort | sickle retinopathy in a person with hemoglobin s new york disease |
| url | http://dx.doi.org/10.1155/2012/136582 |
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