Ocular abnormalities in patients with beta thalassemia.

Area of Science:

• Ophthalmology
• Hematology

Background:

• Beta-thalassemia is a group of inherited blood disorders characterized by reduced or absent synthesis of beta-globin chains.
• Homozygous beta-thalassemia, encompassing major and intermedia forms, presents significant health challenges, including potential systemic complications.

Purpose of the Study:

• To investigate the prevalence and types of ocular abnormalities in patients with homozygous beta-thalassemia.
• To determine the relationship between ocular findings, age, and specific clinical parameters in this patient cohort.

Main Methods:

• Retrospective examination of 29 patients diagnosed with homozygous beta-thalassemia.
• Detailed recording of ocular abnormalities, including retinal pigment epithelium degeneration, lens opacities, vascular abnormalities, and angioid streaks.
• Analysis of patient age, thalassemia type, serum ferritin levels, hematocrit, and deferoxamine dosage.

Main Results:

• Twelve out of 29 patients (41.4%) exhibited one or more ocular abnormalities.
• Common findings included degeneration of the retinal pigment epithelium (RPE) and lens opacities.
• The frequency of ocular abnormalities increased with age, with the youngest affected patient being 6.5 years old.
• No correlation was found between ocular abnormalities and serum ferritin levels, hematocrit, or deferoxamine dose.

Conclusions:

• Ocular abnormalities are common in patients with homozygous beta-thalassemia.
• Age is a significant risk factor for developing these vision-impacting conditions.
• Regular ophthalmic screening is crucial for early detection and management in beta-thalassemia patients.