Abstract
Beta-thalassemia major (β-TM) is a hereditary genetic disease worsened by many comorbidities due to transfusion-related iron despite chelation therapy. Since there has recently been an increase in life expectancy of patients to up to 50 years old, which influences the prevalence of these diseases and the time span for traditional cardiovascular risk factors to play their role, this study aims to evaluate their distribution and prevalence in a population of thalassemia major patients and their relationship with observed cardiovascular events and potential modifying factors. One hundred and fifty-nine β-TM patients with at least 15 years of follow-up were included in this study. The mean age was 40.9 ± 8.4 years; 28% had diabetes mellitus and 62% had hypogonadism. The cardiovascular risk assessed using algorithms (CUORE and Pooled Cohort Risk Equation—PCRE) was low, but 3.8% of patients had at least one episode of heart failure, 35.9% showed early signs of heart failure, 22% received a diagnosis of diastolic dysfunction, and 21.4% showed supraventricular arrhythmias. Hypogonadism was shown to be related to the occurrence of cardiovascular events. The chronic accumulation of iron in the heart and the specific metabolic profile, mainly observed in patients with hypogonadism, allows us to define β-TM as a condition with a high level of cardiovascular risk from many points of view (iron-related myopathy, atherosclerosis and arrhythmias), which requires better stratification tools and a specific follow-up program.
Highlights
Beta-thalassemia major (β-TM) is a hereditary hemoglobin (Hb) disorder caused by reduced synthesis of the β-globin chain, resulting in a chronic hemolytic anemia that typically requires lifelong transfusion therapy [1]
Frequent transfusions lead to iron overload and organ damage: glucose intolerance, diabetes mellitus, skin hyperpigmentation, hypothyroidism, hypogonadism, liver hepatitis, and cirrhosis; cardiomyopathy develops with heart failure, which still is the leading cause of death if iron chelation is not adequately performed [1,2]
In order to assess the cardiovascular risk of beta-thalassemic patients, we evaluated the distribution and prevalence of cardiovascular risk factors and their relationship with observed cardiovascular events and endocrine status
Summary
Beta-thalassemia major (β-TM) is a hereditary hemoglobin (Hb) disorder caused by reduced synthesis of the β-globin chain, resulting in a chronic hemolytic anemia that typically requires lifelong transfusion therapy [1]. These patients develop severe anemia and bone marrow hyperplasia, leading to jaundice, leg ulcers, cholelithiasis, massive splenomegaly, the thickening of the cranial, malar bones, and long bones, pathologic fractures, and impaired growth. Despite the continued presence of iron-related heart disease as a main concern, increasing life expectancy has carried those patients into an age span in which the extremely common atherosclerotic disease may begin to threaten them [5,6,7]. Cardiac disease still remains a major concern, with many efforts taking place to explore early cardiac dysfunction [8,9]
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