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Ocular Manifestations of Sickle Cell Disease in Different Genotypes
Saif Aldeen AlRyalat1, Bahaa Al-Din Mustafa Jaber2, Abdulaziz A Alzarea3
1Department of Special Surgery, The University of Jordan Hospital, The University of Jordan, Amman, Jordan.
Insights
This study compared sickle cell disease (SCD) genotypes and found significant differences in ocular complications like retinopathy. HbSC patients had the highest rates of proliferative retinopathy, while HbSS patients showed the most conjunctival signs.
Area of Science:
- Ophthalmology
- Hematology
- Genetics
Background:
- Sickle cell disease (SCD) is a multisystemic disorder with varied involvement based on genotype.
- Ocular complications are a significant concern in SCD patients.
Purpose of the Study:
- To compare ocular complications across different sickle cell hemoglobinopathy genotypes (HbSS, HbSC, HbS/β+ thalassemia, HbS/β0 thalassemia, SS alpha thalassemia, S/β0+ alpha thalassemia).
Main Methods:
- Data from 1867 patients in the Cooperative Study of Sickle Cell Disease (CSSCD) were analyzed.
- Ocular complications were categorized into conjunctival sign, iris atrophy, and sickle cell retinopathy (proliferative and non-proliferative).
Main Results:
- Significant differences in proliferative sickle cell retinopathy frequency were observed, with HbSC genotype showing the highest rate and HbS/β0 thalassemia the lowest.
- HbSS genotype exhibited the highest frequency of conjunctival signs, while HbS/β+ thalassemia had the lowest.
Conclusions:
- Ocular complications vary significantly among major sickle cell hemoglobinopathies.
- This study confirms previous findings and extends knowledge to less common hemoglobinopathies.
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.
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