Non-transfusion-dependent thalassemias (NTDT), including thalassemia intermedia (TI), are often perceived as less severe than their transfusion-dependent counterparts. However, they impose a significant health burden, manifesting in complications such as splenomegaly, iron overload, skeletal deformities, and cardiopulmonary diseases. This case report aims to enhance understanding of the complexities associated with NTDT, particularly regarding the rapid progression of infection and the associated challenges in management. We report the case of a 62-year-old male farmer from a high-incidence region of thalassemia in China. He was diagnosed with αNTDT during a medical evaluation. His baseline hemoglobin levels were 7 g/dL at the time of genetic testing for thalassemia and 7.2 g/dL upon hospital admission prior to infection. His clinical phenotype was classified as thalassemia intermedia. The patient presented with significant comorbidities, including chronic anemia, iron overload, and pulmonary hypertension, which contributed to his rapid clinical deterioration. Within two months of his definitive diagnosis, the patient developed sepsis that rapidly progressed to multiple organ dysfunction syndrome, leading to death 43 h after admission. Sepsis in patients with NTDT progresses rapidly and is associated with a high mortality rate, primarily due to the compounded burden of chronic anemia, iron overload, and immune dysfunction. This case highlights the need for increased clinical awareness to facilitate early diagnosis and prompt management, even in αNTDT, which is generally considered a milder disorder compared to βNTDT. Enhancing community awareness and implementing proactive healthcare strategies, particularly in high-incidence areas, may significantly reduce adverse health outcomes in patients with NTDT.
Gan et al. (Thu,) studied this question.
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