Insights into the clinical features of thalassemia patients: a single-center study

Thalassemia is a hereditary hemoglobinopathy that requires lifelong care, with β-thalassemia major being the most prevalent and severe form in the Mediterranean region, including Syria. Despite national programs for diagnosis and treatment, data on clinical patterns and healthcare challenges among Syrian patients remain scarce.

This study aimed to characterize the demographic and clinical features of thalassemia patients in a city in Syria and identify gaps in management and preventive care.

A cross-sectional study was conducted on 53 patients at the Thalassemia Center, between October 2024 and April 2025. Data were collected via patient interviews and a review of medical records. Variables included age, sex, thalassemia type, transfusion frequency, iron chelation therapy, splenectomy status, hemoglobin electrophoresis, ferritin levels, and vaccination status. Descriptive statistics and chi-square tests were used in the analysis.

The cohort comprised 28 males and 25 females, with β-thalassemia major accounting for 79.2% of cases and sickle cell thalassemia (15%). Elevated ferritin (>1000 ng/mL) was observed in 83% of patients, and 83% received iron chelation, mostly orally. Sickle hemoglobin was significantly associated with sickle cell thalassemia (P < 0.00001), and 77% had elevated fetal hemoglobin levels. Only 52.8% of the patients underwent splenectomy, and all required regular transfusions. Vaccination coverage varied: 77.3% received pneumococcal meningococcal vaccines, but only 11.3% received Haemophilus influenzae type B. Splenectomy was significantly associated with vaccine uptake (P = 0.016).

Thalassemia patients exhibit high rates of iron overload and undervaccination, reflecting the challenges in disease monitoring and preventive care. Despite the availability of treatment, significant gaps remain in patient education, genetic counseling, and healthcare infrastructure. Strengthening multidisciplinary care, improving vaccination strategies, and enforcing genetic screening are essential for enhancing outcomes in this vulnerable population.