What is hemoglobinopathy retinopathy?

Updated: Sep 03, 2019
  • Author: Brian A Phillpotts, MD; Chief Editor: Hampton Roy, Sr, MD  more...
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While many hemoglobinopathies exist, those resulting in proliferative retinopathy are limited to sickle cell disease. Thalassemia major is associated with a nonproliferative pigmentary retinopathy. The pigmentary changes are believed to be secondary to the liberation of free iron as a result of hemolysis of red blood cells that contain the affected hemoglobin. Homozygous sickle cell disease (SS disease), sickle cell C disease (SC disease), and sickle cell-thalassemia disease (S-Thal disease) are common hemoglobinopathies that can present with mild-to-severe proliferative retinal findings.

Sickle cell hemoglobinopathy encompasses a group of inherited genetic disorders, which cause erythrocytes to become sickled and affect multiple organ systems. The rigid sickled erythrocytes lead to vascular occlusion, which results in retinal hypoxia, ischemia, and neovascularization. If this series of events does not stabilize or reverse with recanalization of the occluded retinal vessels, the subsequent end-stage results may be retinal infarction and/or detachment.

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