Influencing factors of cognitive impairment in patients with thalassemia: a comprehensive review.

Introduction: Thalassemia is an endemic genetic disease. The main clinical manifestation of this condition is long-term chronic anemia. In addition, patients may present with jaundice, heart failure, hepatosplenomegaly, skeletal deformities, growth retardation, and cognitive impairment. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment.

Areas covered: Cognitive impairment in patients with thalassemia has received increasing attention, and related studies have confirmed that patients with thalassemia have varying degrees of cognitive dysfunction. Potential contributing factors include white matter damage, ischemia, hypoxia, and systemic iron overload. However, the specific underlying mechanisms remain unclear and require further investigation. This study aimed to systematically integrate the currently fragmented mechanisms of cognitive impairment in patients with thalassemia.

Methods: PubMed, Web of Science, China National Knowledge Infrastructure, and Wanfang databases were used to search for related literature. The main contents of this review include the latest progress in the diagnosis and treatment of thalassemia and the mechanism of cognitive impairment in patients.

Conclusion: Cognitive impairment in patients with thalassemia includes deficits in spatial memory, computing power, executive operation, emotional communication, and other domains. Several contributing factors have been identified, including white matter damage, ischemia, hypoxia, iron deposition in the brain, and accelerated aging. Iron overload has recently emerged as a research hotspot. However, the exact location, extent, and mechanism of cerebral iron deposition remain unclear. Despite many challenges in the current research, greater breakthroughs are expected in the diagnosis and treatment of cognitive dysfunction in thalassemia, ultimately improving patients' quality of life.