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Case Reports in Genetics
Volume 2012 (2012), Article ID 136582, 3 pages
http://dx.doi.org/10.1155/2012/136582
Case Report

Sickle Retinopathy in a Person with Hemoglobin S/New York Disease

1Department of Surgery, Radiology, Anaesthetics, and Intensive Care, Faculty of Medical Sciences, University of the West Indies, Mona, Kingston 7, Jamaica
2Universite des Antilles et de la Guyane, Centre Hospitalier Universitaire (CHU), Pointe-a-Pitre, UMR S 458 Inserm, 97159 Guadeloupe, France
3Inserm U763, Pointe-à-Pitre, 97159 Guadeloupe, France
4Université des Antilles et de la Guyane, 97159 Guadeloupe, France
5Sickle Cell Unit, Tropical Medicine Research Institute, University of the West Indies, Mona, Kingston 7, Jamaica

Received 30 November 2012; Accepted 19 December 2012

Academic Editors: S. Chappell and M. Velinov

Copyright © 2012 Donovan Calder et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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.