Impaired physical ability in patients with transfusion-dependent β-thalassaemia: Can regular physical activity be a countermeasure?

Abstract

Transfusion-dependent β-thalassaemia (TDβT) is a genetic disorder characterised by reduced or absent β-globin chain synthesis, resulting in chronic anaemia. Treatment consists of regular blood transfusions and chelation therapy to limit iron overload and its negative effects on organs (e.g. heart, lungs and liver). Despite improved life expectancy with transfusions and chelation therapy, TDβT patients experience poor quality of life and impaired exercise capacity (mainly due to muscle deconditioning and reduced cardiac inotropism). The aims of this review are (i) to discuss the role of organ dysfunction in the impairment of exercise capacity and reduced quality of life of TDβT patients; and (ii) to discuss physical activity as a potential therapeutic strategy to alleviate the multifactorial impact of the disease.

Keywords: muscle; physical exercise; thalassaemia; transfusion.

FIGURE 1

Hypothetical mechanisms involved in quality of life and physical ability in transfusion‐dependent β‐thalassaemia. Reduced β‐globin chain synthesis leads to the precipitation of excess α chains, which causes both haemolytic anaemia and oxidative stress. Moreover, transfusion and hepcidin deficiency induce iron overload and related organ dysfunction (heart, lungs and bones). These organ dysfunctions and the muscle deconditioning caused by a sedentary lifestyle both contribute to poor physical ability and quality of life.

FIGURE 2

Potential beneficial effects of regular physical activity in transfusion‐dependent β‐thalassaemia. Regular physical activity may appear as a potential interesting strategy to limit anaemia, iron overload, muscle deconditioning and fragility fracture risk. Exercise may (i) limit iron absorption by increasing hepcidin expression, (ii) decrease oxidative stress damages (haemolysis and cardiac dysfunction), (iii) improve mental health and (iv) increase bone density. All these factors may contribute to improving patients' quality of life by improving either their physical fitness and/or their mental health.