An update on the US adult thalassaemia population: a report from the CDC thalassaemia treatment centres

Abstract

Thalassaemia is caused by genetic globin defects leading to anaemia, transfusion-dependence and comorbidities. Reduced survival and systemic organ disease affect transfusion-dependent thalassaemia major and thalassaemia intermedia. Recent improvements in clinical management have reduced thalassaemia mortality. The therapeutic landscape of thalassaemia may soon include gene therapies as functional cures. An analysis of the adult US thalassaemia population has not been performed since the Thalassemia Clinical Research Network cohort study from 2000 to 2006. The Centers for Disease Control and Prevention supported US thalassaemia treatment centres (TTCs) to compile longitudinal information on individuals with thalassaemia. This dataset provided an opportunity to evaluate iron balance, chelation, comorbidities and demographics of adults with thalassaemia receiving care at TTCs. Two adult cohorts were compared: those over 40 years old (n = 75) and younger adults ages 18-39 (n = 201). The older adult cohort was characterized by higher numbers of iron-related comorbidities and transfusion-related complications. By contrast, younger adults had excess hepatic and cardiac iron and were receiving combination chelation therapy. The ethnic composition of the younger cohort was predominantly of Asian origin, reflecting the demographics of immigration. These findings demonstrate that comprehensive care and periodic surveys are needed to ensure optimal health and access to emerging therapies.

Thalassaemia—A global view

“…Finally, even in countries associated with advanced health care systems, comorbidities, and even mortality, are increased in transfusion-dependent thalassaemia. 3,4 For these reasons, given the same starting conditions, patients will be treated differently according to the country and institution they are in. Therefore, in this review I have tasked experts from around the world to describe their management plan and rationale for a specific disease presentation.…”

β‐Thalassemia in childhood: Current state of health in a high‐income country

“…Repeated transfusions or inappropriate digestive hyperabsorption of iron caused by an impaired hepcidine‐erythroferone axis result in progressive iron overload. Long‐term effects of iron overload include myocardial dysfunction, liver failure and endocrine dysfunction, which all greatly influence the prognosis and burden of β‐thalassemia 3–5 . While iron chelation therapy is generally mandatory to control iron overload, few disease‐modifying treatments are available to reduce transfusion requirements 6 .…”

“…Long-term effects of iron overload include myocardial dysfunction, liver failure and endocrine dysfunction, which all greatly influence the prognosis and burden of β-thalassemia. [3][4][5] While iron chelation therapy is generally mandatory to control iron overload, few disease-modifying treatments are available to reduce transfusion requirements. 6 Hydroxycarbamide, an HbF inducer, may reduce the need for transfusions in subgroups of patients, while more recent drugs such as luspatercept or mitavopivat may further show some benefit.…”

Diagnostic Modalities in Detecting Cardiovascular Complications of Thalassemia

“…Thus far, combined chelating agents and heart failure management have been recognized as management strategies of TDT alongside regular lifelong blood transfusion. Clinical trials on iron chelators and their combination regimens have been well described in a review article by Chapin J et al [12]. However, a recently pub-lished study curating national thalassemia registry data has indicated that iron chelator agents are not evenly accessible for all TDT patients [12].…”

“…Clinical trials on iron chelators and their combination regimens have been well described in a review article by Chapin J et al [12]. However, a recently pub-lished study curating national thalassemia registry data has indicated that iron chelator agents are not evenly accessible for all TDT patients [12]. Younger TDT patients are likely to be prescribed combination iron chelators, yet they exhibited significantly higher mean serum ferritin concentration during a 12-month interval period of observation.…”