Chronic myeloid leukemia in a patient with beta thalassemia major: a rare presentation

Chronic myeloid leukemia (CML) in patients with β-thalassemia major is a rare and concerning occurrence. The longer life expectancy of thalassemia patients, resulting from improved treatment options and better healthcare facilities, has led to the emergence of various health-related issues and complications. We present the case of a 24-year-old female diagnosed with β-thalassemia major at six months of age, who presented with weakness and lethargy in clinic. Investigations, including a bone marrow biopsy, confirmed CML in the chronic phase. Initial management with imatinib resulted in severe thrombocytopenia and failure to achieve a molecular response. The treatment was then switched to Ponatinib, leading to a favorable outcome with early molecular response. This case report highlights the increased risk of hematological malignancies in thalassemia patients and underscores the importance of vigilant monitoring in them. Furthermore, it emphasizes the role and effectiveness of third-generation tyrosine kinase inhibitors in the management of such cases.