Background: Sickle cell disease (SCD) is a multisystemic disorder with variable systemic involvement which varies according to genotype. In this study, our aim is to compare ocular complications between HbSS, HbSC, HbS/β+ thalassemia, HbS/β0 thalassemia, SS alpha thalassemia, and S/β0 + alpha thalassemia genotypes.
Methods: Data of patients included in this study was recruited from the Cooperative Study of Sickle Cell Disease (CSSCD). Patients with major sickle cell hemoglobinopathies (SS, SC, Sβ- thalassemia, SS alpha thalassemia) were eligible for enrollment, after that, a detailed eye exam was performed. We categorized ocular complications into conjunctival sign, iris atrophy, and both proliferative and non-proliferative sickle cell retinopathy.
Results: A total of 1867 patients were included in this study, with a mean age of 27.7 (± 11.7) years. They were 830 (44.5%) males and 1037 (55.5%) females. The most common genotype was SS with 971 (52%) patients, and the least common form was sickle cell with both alpha and beta thalassemia major with 42 (2.2%) patients. We found a significant difference in the frequency of proliferative sickle cell retinopathy, where SC genotype had the highest frequency and S B0 thalassemia genotype had the lowest frequency. We also found a significant difference in the frequency of conjunctival sign, where SS genotype had the highest frequency and the S B+ thalassemia has the lowest frequency.
Conclusion: We identified ocular complications for major sickle cell hemoglobinopathies, where we confirmed previous small study's findings and identified ocular complications of less common hemoglobinopathies.
Keywords: Sickle cell; eye; genotype; ocular; retinopathy.