Increased Prevalence of Thromboembolic Events in Patients with Congenital Dyserythropoietic Anemia Type I.

Introduction: Congenital dyserythropoietic anemia type I (CDA-I) is a rare disorder of erythropoiesis. All CDA-I patients are expected to have iron overload and chronic hemolysis. Patients with severe anemia may undergo splenectomy. Hemochromatosis, chronic hemolysis, and splenectomy are all found to increase risk for thromboembolism in thalassemic patients. As CDA-I patients have similar findings, we sought to evaluate prevalence of thromboembolic events (TEEs) in these patients.

Methods: A retrospective case-control study was conducted, including 110 CDA-I patients (study group) and 326 age- and sex-matched iron deficiency anemia patients of the same ethnicity (control group). Patients were risk-stratified using Risk Assessment Models for thromboembolism.

Results: We identified 3 cases (2.7%) with TEEs in the CDA group and 1 case (0.3%) in the control group. All patients were females. VTE risk scores were low to moderate for CDA patients and higher for IDA patient. When compared to control group, CDA-I patients were nine times more likely to develop TEE (OR 9.11, 95% CI = 1.15-185.27, p = 0.057). All 3 CDA patients had a history of remarkable hemolysis and iron overload. Two underwent splenectomy.

Conclusion: These findings show that CDA patients appear to be at increased risk for TEEs.